Canonical Allele Identifier: CA10585226
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251571
ClinVar RCV Id: RCV000238426 RCV003165667
dbSNP Id: rs879254739
COSMIC: COSM394674
MyVariant Identifiers: chr19:g.11221340G>A (hg19) chr19:g.11110664G>A (hg38)
PubMed: PMID:1301956 PMID:23375686
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110664G>A , CM000681.2:g.11110664G>A GRCh38
NC_000019.9:g.11221340G>A , CM000681.1:g.11221340G>A GRCh37
NC_000019.8:g.11082340G>A NCBI36
NG_009060.1:g.26284G>A , LRG_274:g.26284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1211G>A ENSP00000252444.6:p.Cys404Tyr
ENST00000559340.2:c.953G>A ENSP00000453696.2:p.Cys318Tyr
ENST00000560467.2:c.941-850G>A ENSP00000453513.2:n.941-850G>A
ENST00000558518.6:c.953G>A MANE Select ENSP00000454071.1:p.Cys318Tyr
ENST00000252444.9:c.1207G>A
ENST00000455727.6:c.449G>A ENSP00000397829.2:p.Cys150Tyr
ENST00000535915.5:c.830G>A ENSP00000440520.1:p.Cys277Tyr
ENST00000545707.5:c.572G>A ENSP00000437639.1:p.Cys191Tyr
ENST00000557933.5:c.953G>A ENSP00000453557.1:p.Cys318Tyr
ENST00000558013.5:c.953G>A ENSP00000453346.1:p.Cys318Tyr
ENST00000558518.5:c.953G>A ENSP00000454071.1:p.Cys318Tyr
ENST00000560467.1:c.541-850G>A
NM_000527.4:c.953G>A , LRG_274t1:c.953G>A NP_000518.1:p.Cys318Tyr
NM_001195798.1:c.953G>A NP_001182727.1:p.Cys318Tyr
NM_001195799.1:c.830G>A NP_001182728.1:p.Cys277Tyr
NM_001195800.1:c.449G>A NP_001182729.1:p.Cys150Tyr
NM_001195803.1:c.572G>A NP_001182732.1:p.Cys191Tyr
XM_011528010.1:c.953G>A XP_011526312.1:p.Cys318Tyr
XM_011528011.1:c.572G>A XP_011526313.1:p.Cys191Tyr
XR_244074.2:n.1103G>A
XM_011528010.2:c.953G>A XP_011526312.1:p.Cys318Tyr
XR_001753685.2:n.1070G>A
XR_001753686.2:n.1070G>A
NM_000527.5:c.953G>A MANE Select NP_000518.1:p.Cys318Tyr
NM_001195798.2:c.953G>A NP_001182727.1:p.Cys318Tyr
NM_001195799.2:c.830G>A NP_001182728.1:p.Cys277Tyr
NM_001195800.2:c.449G>A NP_001182729.1:p.Cys150Tyr
NM_001195803.2:c.572G>A NP_001182732.1:p.Cys191Tyr
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