Canonical Allele Identifier: CA10585831
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252292
ClinVar RCV Id: RCV000238575
dbSNP Id: rs879255182
COSMIC: COSM4770965
MyVariant Identifiers: chr19:g.11238732T>A (hg19) chr19:g.11128056T>A (hg38)
PubMed: PMID:19318025
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128056T>A , CM000681.2:g.11128056T>A GRCh38
NC_000019.9:g.11238732T>A , CM000681.1:g.11238732T>A GRCh37
NC_000019.8:g.11099732T>A NCBI36
NG_009060.1:g.43676T>A , LRG_274:g.43676T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2618T>A ENSP00000252444.6:p.Val873Glu
ENST00000559340.2:c.*429T>A ENSP00000453696.2:n.*429T>A
ENST00000560467.2:c.2240T>A ENSP00000453513.2:p.Val747Glu
ENST00000558518.6:c.2360T>A MANE Select ENSP00000454071.1:p.Val787Glu
ENST00000252444.9:c.2614T>A
ENST00000455727.6:c.1856T>A ENSP00000397829.2:p.Val619Glu
ENST00000535915.5:c.2237T>A ENSP00000440520.1:p.Val746Glu
ENST00000545707.5:c.1826T>A ENSP00000437639.1:p.Val609Glu
ENST00000557933.5:c.2360T>A ENSP00000453557.1:p.Val787Glu
ENST00000558013.5:c.2360T>A ENSP00000453346.1:p.Val787Glu
ENST00000558518.5:c.2360T>A ENSP00000454071.1:p.Val787Glu
ENST00000560628.1:n.108+402T>A
NM_000527.4:c.2360T>A , LRG_274t1:c.2360T>A NP_000518.1:p.Val787Glu
NM_001195798.1:c.2360T>A NP_001182727.1:p.Val787Glu
NM_001195799.1:c.2237T>A NP_001182728.1:p.Val746Glu
NM_001195800.1:c.1856T>A NP_001182729.1:p.Val619Glu
NM_001195803.1:c.1826T>A NP_001182732.1:p.Val609Glu
XM_011528010.1:c.2312-1457T>A XP_011526312.1:n.2312-1457T>A
XM_011528011.1:c.1979T>A XP_011526313.1:p.Val660Glu
XR_244074.2:n.2370T>A
XM_011528010.2:c.2312-1457T>A XP_011526312.1:n.2312-1457T>A
XR_001753685.2:n.2694T>A
XR_001753686.2:n.2337T>A
NM_000527.5:c.2360T>A MANE Select NP_000518.1:p.Val787Glu
NM_001195798.2:c.2360T>A NP_001182727.1:p.Val787Glu
NM_001195799.2:c.2237T>A NP_001182728.1:p.Val746Glu
NM_001195800.2:c.1856T>A NP_001182729.1:p.Val619Glu
NM_001195803.2:c.1826T>A NP_001182732.1:p.Val609Glu
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