Canonical Allele Identifier: CA404085595
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773516
ClinVar RCV Id: RCV003582115

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113545G>C , CM000681.2:g.11113545G>C GRCh38
NC_000019.9:g.11224221G>C , CM000681.1:g.11224221G>C GRCh37
NC_000019.8:g.11085221G>C NCBI36
NG_009060.1:g.29165G>C , LRG_274:g.29165G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1627G>C ENSP00000252444.6:p.Asp543His
ENST00000559340.2:c.1369G>C ENSP00000453696.2:p.Asp457His
ENST00000560467.2:c.1249G>C ENSP00000453513.2:p.Asp417His
ENST00000558518.6:c.1369G>C MANE Select ENSP00000454071.1:p.Asp457His
ENST00000252444.9:c.1623G>C
ENST00000455727.6:c.865G>C ENSP00000397829.2:p.Asp289His
ENST00000535915.5:c.1246G>C ENSP00000440520.1:p.Asp416His
ENST00000545707.5:c.988G>C ENSP00000437639.1:p.Asp330His
ENST00000557933.5:c.1369G>C ENSP00000453557.1:p.Asp457His
ENST00000558013.5:c.1369G>C ENSP00000453346.1:p.Asp457His
ENST00000558518.5:c.1369G>C ENSP00000454071.1:p.Asp457His
ENST00000559340.1:c.90G>C
ENST00000560467.1:c.849G>C
NM_000527.4:c.1369G>C , LRG_274t1:c.1369G>C NP_000518.1:p.Asp457His
NM_001195798.1:c.1369G>C NP_001182727.1:p.Asp457His
NM_001195799.1:c.1246G>C NP_001182728.1:p.Asp416His
NM_001195800.1:c.865G>C NP_001182729.1:p.Asp289His
NM_001195803.1:c.988G>C NP_001182732.1:p.Asp330His
XM_011528010.1:c.1369G>C XP_011526312.1:p.Asp457His
XM_011528011.1:c.988G>C XP_011526313.1:p.Asp330His
XR_244074.2:n.1519G>C
XM_011528010.2:c.1369G>C XP_011526312.1:p.Asp457His
XR_001753685.2:n.1486G>C
XR_001753686.2:n.1486G>C
NM_000527.5:c.1369G>C MANE Select NP_000518.1:p.Asp457His
NM_001195798.2:c.1369G>C NP_001182727.1:p.Asp457His
NM_001195799.2:c.1246G>C NP_001182728.1:p.Asp416His
NM_001195800.2:c.865G>C NP_001182729.1:p.Asp289His
NM_001195803.2:c.988G>C NP_001182732.1:p.Asp330His