Canonical Allele Identifier: CA023668
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3703
ClinVar RCV Id: RCV000003892
dbSNP Id: rs121908032

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129562G>A , CM000681.2:g.11129562G>A GRCh38
NC_000019.9:g.11240238G>A , CM000681.1:g.11240238G>A GRCh37
NC_000019.8:g.11101238G>A NCBI36
NG_009060.1:g.45182G>A , LRG_274:g.45182G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2697G>A ENSP00000252444.6:p.Trp899Ter
ENST00000559340.2:c.*508G>A ENSP00000453696.2:n.*508G>A
ENST00000560467.2:c.2319G>A ENSP00000453513.2:p.Trp773Ter
ENST00000558518.6:c.2439G>A MANE Select ENSP00000454071.1:p.Trp813Ter
ENST00000252444.9:c.2693G>A
ENST00000455727.6:c.1935G>A ENSP00000397829.2:p.Trp645Ter
ENST00000535915.5:c.2316G>A ENSP00000440520.1:p.Trp772Ter
ENST00000545707.5:c.1905G>A ENSP00000437639.1:p.Trp635Ter
ENST00000557933.5:c.2501G>A ENSP00000453557.1:p.Gly834Asp
ENST00000558013.5:c.2439G>A ENSP00000453346.1:p.Trp813Ter
ENST00000558518.5:c.2439G>A ENSP00000454071.1:p.Trp813Ter
ENST00000560628.1:n.108+1908G>A
NM_000527.4:c.2439G>A , LRG_274t1:c.2439G>A NP_000518.1:p.Trp813Ter
NM_001195798.1:c.2439G>A NP_001182727.1:p.Trp813Ter
NM_001195799.1:c.2316G>A NP_001182728.1:p.Trp772Ter
NM_001195800.1:c.1935G>A NP_001182729.1:p.Trp645Ter
NM_001195803.1:c.1905G>A NP_001182732.1:p.Trp635Ter
XM_011528010.1:c.2361G>A XP_011526312.1:p.Trp787Ter
XM_011528011.1:c.2058G>A XP_011526313.1:p.Trp686Ter
XR_244074.2:n.2449G>A
XM_011528010.2:c.2361G>A XP_011526312.1:p.Trp787Ter
XR_001753685.2:n.2773G>A
XR_001753686.2:n.2416G>A
NM_000527.5:c.2439G>A MANE Select NP_000518.1:p.Trp813Ter
NM_001195798.2:c.2439G>A NP_001182727.1:p.Trp813Ter
NM_001195799.2:c.2316G>A NP_001182728.1:p.Trp772Ter
NM_001195800.2:c.1935G>A NP_001182729.1:p.Trp645Ter
NM_001195803.2:c.1905G>A NP_001182732.1:p.Trp635Ter