Canonical Allele Identifier: CA10585683
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252115
dbSNP Id: rs879255075

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120174C>T , CM000681.2:g.11120174C>T GRCh38
NC_000019.9:g.11230850C>T , CM000681.1:g.11230850C>T GRCh37
NC_000019.8:g.11091850C>T NCBI36
NG_009060.1:g.35794C>T , LRG_274:g.35794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2186C>T ENSP00000252444.6:p.Ala729Val
ENST00000559340.2:c.1788C>T ENSP00000453696.2:p.Gly596=
ENST00000560467.2:c.1808C>T ENSP00000453513.2:p.Ala603Val
ENST00000558518.6:c.1928C>T MANE Select ENSP00000454071.1:p.Ala643Val
ENST00000252444.9:c.2182C>T
ENST00000455727.6:c.1424C>T ENSP00000397829.2:p.Ala475Val
ENST00000535915.5:c.1805C>T ENSP00000440520.1:p.Ala602Val
ENST00000545707.5:c.1547C>T ENSP00000437639.1:p.Ala516Val
ENST00000557933.5:c.1928C>T ENSP00000453557.1:p.Ala643Val
ENST00000558013.5:c.1928C>T ENSP00000453346.1:p.Ala643Val
ENST00000558518.5:c.1928C>T ENSP00000454071.1:p.Ala643Val
ENST00000559340.1:c.509C>T
NM_000527.4:c.1928C>T , LRG_274t1:c.1928C>T NP_000518.1:p.Ala643Val
NM_001195798.1:c.1928C>T NP_001182727.1:p.Ala643Val
NM_001195799.1:c.1805C>T NP_001182728.1:p.Ala602Val
NM_001195800.1:c.1424C>T NP_001182729.1:p.Ala475Val
NM_001195803.1:c.1547C>T NP_001182732.1:p.Ala516Val
XM_011528010.1:c.1928C>T XP_011526312.1:p.Ala643Val
XM_011528011.1:c.1547C>T XP_011526313.1:p.Ala516Val
XR_244074.2:n.1938C>T
XM_011528010.2:c.1928C>T XP_011526312.1:p.Ala643Val
XR_001753685.2:n.2045C>T
XR_001753686.2:n.1905C>T
NM_000527.5:c.1928C>T MANE Select NP_000518.1:p.Ala643Val
NM_001195798.2:c.1928C>T NP_001182727.1:p.Ala643Val
NM_001195799.2:c.1805C>T NP_001182728.1:p.Ala602Val
NM_001195800.2:c.1424C>T NP_001182729.1:p.Ala475Val
NM_001195803.2:c.1547C>T NP_001182732.1:p.Ala516Val