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 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| 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, | |
| 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000558013.1 | LDLR-002 | 3144 | 858aa | ENSP00000453346.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58651 | E1B4S5 P01130 Q6LCH2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000557933.1 | LDLR-012 | 2941 | 948aa | ENSP00000453557.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E1B4S5 H0YMD1 Q6LCH2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
