Canonical Allele Identifier: CA10585287
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251645
ClinVar RCV Id: RCV000238074
dbSNP Id: rs879254777

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111520A>C , CM000681.2:g.11111520A>C GRCh38
NC_000019.9:g.11222196A>C , CM000681.1:g.11222196A>C GRCh37
NC_000019.8:g.11083196A>C NCBI36
NG_009060.1:g.27140A>C , LRG_274:g.27140A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1325A>C ENSP00000252444.6:p.Asp442Ala
ENST00000559340.2:c.1067A>C ENSP00000453696.2:p.Asp356Ala
ENST00000560467.2:c.947A>C ENSP00000453513.2:p.Asp316Ala
ENST00000558518.6:c.1067A>C MANE Select ENSP00000454071.1:p.Asp356Ala
ENST00000252444.9:c.1321A>C
ENST00000455727.6:c.563A>C ENSP00000397829.2:p.Asp188Ala
ENST00000535915.5:c.944A>C ENSP00000440520.1:p.Asp315Ala
ENST00000545707.5:c.686A>C ENSP00000437639.1:p.Asp229Ala
ENST00000557933.5:c.1067A>C ENSP00000453557.1:p.Asp356Ala
ENST00000558013.5:c.1067A>C ENSP00000453346.1:p.Asp356Ala
ENST00000558518.5:c.1067A>C ENSP00000454071.1:p.Asp356Ala
ENST00000560173.1:n.66A>C
ENST00000560467.1:c.547A>C
NM_000527.4:c.1067A>C , LRG_274t1:c.1067A>C NP_000518.1:p.Asp356Ala
NM_001195798.1:c.1067A>C NP_001182727.1:p.Asp356Ala
NM_001195799.1:c.944A>C NP_001182728.1:p.Asp315Ala
NM_001195800.1:c.563A>C NP_001182729.1:p.Asp188Ala
NM_001195803.1:c.686A>C NP_001182732.1:p.Asp229Ala
XM_011528010.1:c.1067A>C XP_011526312.1:p.Asp356Ala
XM_011528011.1:c.686A>C XP_011526313.1:p.Asp229Ala
XR_244074.2:n.1217A>C
XM_011528010.2:c.1067A>C XP_011526312.1:p.Asp356Ala
XR_001753685.2:n.1184A>C
XR_001753686.2:n.1184A>C
NM_000527.5:c.1067A>C MANE Select NP_000518.1:p.Asp356Ala
NM_001195798.2:c.1067A>C NP_001182727.1:p.Asp356Ala
NM_001195799.2:c.944A>C NP_001182728.1:p.Asp315Ala
NM_001195800.2:c.563A>C NP_001182729.1:p.Asp188Ala
NM_001195803.2:c.686A>C NP_001182732.1:p.Asp229Ala