Description
low density lipoprotein receptor [Source:HGNC Symbol;Acc:6547]
Gene Synonyms
FH, FHC, LDLCQ2
Location
Chromosome 19: 11,200,138-11,242,201 forward strand.
About this transcript
This transcript has 18 exons, is annotated with 91 domains and features, is associated with 24508 variant alleles and maps to 471 oligo probes.
Gene
This transcript is a product of gene ENSG00000130164.7 Show transcript tableHide transcript table
| 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 | - | - | - |