Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000252444.5LDLR-0045337945aaENSP00000252444.5
 
Protein coding
E1B4S5 Q6LCH2 -CDS 5' incomplete
ENST00000558518.1LDLR-0033617860aaENSP00000454071.1
 
Protein coding
CCDS12254E1B4S5 P01130 Q6LCH2
NM_001195798.1GENCODE basic
ENST00000558013.1LDLR-0023144858aaENSP00000453346.1
 
Protein coding
CCDS58651E1B4S5 P01130 Q6LCH2
-GENCODE basic
ENST00000557933.1LDLR-0122941948aaENSP00000453557.1
 
Protein coding
E1B4S5 H0YMD1 Q6LCH2
-GENCODE basic
ENST00000535915.1LDLR-0012768819aaENSP00000440520.1
 
Protein coding
CCDS56085E1B4S5 P01130 Q6LCH2
NM_001195799.1GENCODE basic
ENST00000545707.1LDLR-0062429682aaENSP00000437639.1
 
Protein coding
CCDS56083E1B4S5 P01130 Q6LCH2
NM_001195803.1GENCODE basic
ENST00000455727.2LDLR-0072333692aaENSP00000397829.2
 
Protein coding
CCDS56084E1B4S5 P01130 Q6LCH2
NM_001195800.1GENCODE basic
ENST00000560467.1LDLR-011928309aaENSP00000453513.1
 
Protein coding
E1B4S5 -CDS 5' and 3' incomplete
ENST00000559340.1LDLR-015605170aaENSP00000453696.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000560628.1LDLR-014535No protein-
 
Processed transcript
---
ENST00000557958.1LDLR-0091881No protein-
 
Retained intron
---
ENST00000560502.1LDLR-008509No protein-
 
Retained intron
---
ENST00000558528.1LDLR-010456No protein-
 
Retained intron
---
ENST00000560173.1LDLR-013389No protein-
 
Retained intron
---