Description
elastin [Source:HGNC Symbol;Acc:3327]
Gene Synonyms
SVAS, WBS, WS
Location
Chromosome 7: 73,442,119-73,484,237 forward strand.
GRCh37:CM000669.1
View alleles of this gene on alternative sequences
About this gene
This gene has 33 transcripts (splice variants), 1 gene allele and is associated with 61 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000252034.7 | ELN-002 | 3781 | 724aa | ENSP00000252034.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5562 | P15502 Q9UMK5 | NM_001278915.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000358929.4 | ELN-201 | 3674 | 792aa | ENSP00000351807.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8WAH6 Q9UMK5 | NM_001278939.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000357036.5 | ELN-010 | 3361 | 711aa | ENSP00000349540.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43598 | P15502 Q9UMK5 | NM_001081754.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000429192.1 | ELN-011 | 3298 | 692aa | ENSP00000391129.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47611 | P15502 Q9UMK5 | NM_001081753.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000380584.4 | ELN-008 | 3214 | 658aa | ENSP00000369958.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64675 | P15502 Q9UMK5 | NM_001278916.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000458204.1 | ELN-009 | 3147 | 714aa | ENSP00000403162.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64678 | E7EN65 Q9UMK5 | NM_001278917.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000414324.1 | ELN-005 | 3139 | 700aa | ENSP00000392575.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64677 | G3V0G6 Q9UMK5 | NM_001278914.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000380576.5 | ELN-013 | 3109 | 705aa | ENSP00000369950.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47612 | P15502 Q9UMK5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000380575.4 | ELN-007 | 3043 | 677aa | ENSP00000369949.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43599 | P15502 Q9UMK5 | NM_001278918.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000320492.7 | ELN-004 | 2991 | 643aa | ENSP00000315607.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64676 | G5E950 Q9UMK5 | NM_001278913.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000380553.4 | ELN-012 | 2703 | 570aa | ENSP00000369926.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | P15502 Q9UMK5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000445912.1 | ELN-003 | 2583 | 706aa | ENSP00000389857.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64674 | E7ENM0 Q9UMK5 | NM_001278912.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000320399.6 | ELN-001 | 2274 | 757aa | ENSP00000313565.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A7L3I8 P15502 Q9UMK5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000380562.4 | ELN-006 | 2240 | 730aa | ENSP00000369936.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64673 | P15502 Q9UMK5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000438906.1 | ELN-015 | 962 | 294aa | ENSP00000406949.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ETP7 Q9UMK5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000417091.1 | ELN-023 | 658 | 214aa | ENSP00000411092.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ENW7 Q9UMK5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000438880.1 | ELN-020 | 563 | 168aa | ENSP00000389206.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EP82 Q9UMK5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000431562.1 | ELN-014 | 542 | 151aa | ENSP00000394549.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EQH8 Q9UMK5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000442310.1 | ELN-025 | 542 | 176aa | ENSP00000403961.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EN51 Q9UMK5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000428787.1 | ELN-027 | 512 | 166aa | ENSP00000399499.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EWS8 Q9UMK5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000416107.1 | ELN-024 | 714 | 68aa | ENSP00000404138.1 | Nonsense mediated decay | E9PGX4 Q9UMK5 | - | - | |
| ENST00000419398.1 | ELN-028 | 489 | 60aa | ENSP00000412262.1 | Nonsense mediated decay | H7C3K0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000466878.1 | ELN-031 | 564 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000493839.1 | ELN-030 | 752 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000468517.1 | ELN-019 | 627 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000492210.1 | ELN-032 | 590 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000494160.1 | ELN-016 | 582 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000477397.1 | ELN-029 | 570 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000462506.1 | ELN-017 | 558 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000480728.1 | ELN-021 | 545 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000479432.1 | ELN-022 | 542 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000492003.1 | ELN-018 | 524 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000473323.1 | ELN-026 | 474 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
