Description
low density lipoprotein receptor [Source:HGNC Symbol;Acc:6547]
Gene Synonyms
FH, FHC, LDLCQ2
Location
Chromosome 19: 11,200,038-11,244,492 forward strand.
GRCh37:CM000681.1
About this gene
This gene has 14 transcripts (splice variants), 12 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000558518.1 | LDLR-003 | 3617 | 860aa | ENSP00000454071.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12254 | E1B4S5 P01130 Q6LCH2 | NM_001195798.1 | 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, |
| ENST00000252444.5 | LDLR-004 | 5337 | 945aa | ENSP00000252444.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E1B4S5 Q6LCH2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000558013.1 | LDLR-002 | 3144 | 858aa | ENSP00000453346.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58651 | E1B4S5 P01130 Q6LCH2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000557933.1 | LDLR-012 | 2941 | 948aa | ENSP00000453557.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E1B4S5 H0YMD1 Q6LCH2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000535915.1 | LDLR-001 | 2768 | 819aa | ENSP00000440520.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56085 | E1B4S5 P01130 Q6LCH2 | NM_001195799.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000545707.1 | LDLR-006 | 2429 | 682aa | ENSP00000437639.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56083 | E1B4S5 P01130 Q6LCH2 | NM_001195803.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000455727.2 | LDLR-007 | 2333 | 692aa | ENSP00000397829.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56084 | E1B4S5 P01130 Q6LCH2 | NM_001195800.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000560467.1 | LDLR-011 | 928 | 309aa | ENSP00000453513.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E1B4S5 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000559340.1 | LDLR-015 | 605 | 170aa | ENSP00000453696.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000560628.1 | LDLR-014 | 535 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557958.1 | LDLR-009 | 1881 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000560502.1 | LDLR-008 | 509 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000558528.1 | LDLR-010 | 456 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000560173.1 | LDLR-013 | 389 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
