Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Gene Synonyms
BDPLT15
Location
Chromosome 14: 69,340,860-69,446,157 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 21 transcripts (splice variants), 12 paralogues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000394419.4 | ACTN1-005 | 3464 | 914aa | ENSP00000377941.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45130 | G3V2E8 G3V2W4 G3V2X9 P12814 Q5ZEZ4 | NM_001130004.1 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000193403.6 | ACTN1-001 | 3779 | 892aa | ENSP00000193403.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9792 | G3V2E8 G3V2W4 G3V2X9 P12814 Q5ZEZ4 | NM_001102.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000438964.2 | ACTN1-002 | 3043 | 887aa | ENSP00000414272.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45129 | G3V2E8 G3V2W4 G3V2X9 H9KV75 P12814 | NM_001130005.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000376839.3 | ACTN1-007 | 2824 | 822aa | ENSP00000366035.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2E8 G3V2W4 G3V2X9 H9KV75 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000538545.2 | ACTN1-006 | 2813 | 930aa | ENSP00000439828.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2E8 G3V2W4 G3V2X9 P12814 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000556433.1 | ACTN1-011 | 1259 | 260aa | ENSP00000450764.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DRP5 G3V2E8 G3V2N5 G3V2X9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000555616.1 | ACTN1-012 | 919 | 238aa | ENSP00000450903.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2E8 G3V2W4 G3V2X9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000544964.2 | ACTN1-019 | 891 | 297aa | ENSP00000444422.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C5W8 Q5ZEZ4 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000555075.1 | ACTN1-022 | 828 | 251aa | ENSP00000452254.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000553290.1 | ACTN1-020 | 619 | 207aa | ENSP00000450625.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5ZEZ4 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000553370.1 | ACTN1-015 | 605 | 144aa | ENSP00000450925.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2E8 G3V2X9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000556571.1 | ACTN1-014 | 568 | 126aa | ENSP00000452423.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V5M4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000553779.1 | ACTN1-016 | 530 | 85aa | ENSP00000450618.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2E8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000553659.1 | ACTN1-013 | 434 | 72aa | ENSP00000451086.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V380 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000554508.1 | ACTN1-018 | 585 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000554158.1 | ACTN1-017 | 571 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000556203.1 | ACTN1-010 | 564 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000556343.1 | ACTN1-021 | 274 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000556083.1 | ACTN1-008 | 4674 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000553882.1 | ACTN1-009 | 2636 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000556432.1 | ACTN1-023 | 558 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
