Canonical Allele Identifier: CA10588896
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 265903
ClinVar RCV Id: RCV000256293
dbSNP Id: rs886039833

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113675T>C , CM000681.2:g.11113675T>C GRCh38
NC_000019.9:g.11224351T>C , CM000681.1:g.11224351T>C GRCh37
NC_000019.8:g.11085351T>C NCBI36
NG_009060.1:g.29295T>C , LRG_274:g.29295T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1757T>C ENSP00000252444.6:p.Val586Ala
ENST00000559340.2:c.1499T>C ENSP00000453696.2:p.Val500Ala
ENST00000560467.2:c.1379T>C ENSP00000453513.2:p.Val460Ala
ENST00000558518.6:c.1499T>C MANE Select ENSP00000454071.1:p.Val500Ala
ENST00000252444.9:c.1753T>C
ENST00000455727.6:c.995T>C ENSP00000397829.2:p.Val332Ala
ENST00000535915.5:c.1376T>C ENSP00000440520.1:p.Val459Ala
ENST00000545707.5:c.1118T>C ENSP00000437639.1:p.Val373Ala
ENST00000557933.5:c.1499T>C ENSP00000453557.1:p.Val500Ala
ENST00000558013.5:c.1499T>C ENSP00000453346.1:p.Val500Ala
ENST00000558518.5:c.1499T>C ENSP00000454071.1:p.Val500Ala
ENST00000559340.1:c.220T>C
NM_000527.4:c.1499T>C , LRG_274t1:c.1499T>C NP_000518.1:p.Val500Ala
NM_001195798.1:c.1499T>C NP_001182727.1:p.Val500Ala
NM_001195799.1:c.1376T>C NP_001182728.1:p.Val459Ala
NM_001195800.1:c.995T>C NP_001182729.1:p.Val332Ala
NM_001195803.1:c.1118T>C NP_001182732.1:p.Val373Ala
XM_011528010.1:c.1499T>C XP_011526312.1:p.Val500Ala
XM_011528011.1:c.1118T>C XP_011526313.1:p.Val373Ala
XR_244074.2:n.1649T>C
XM_011528010.2:c.1499T>C XP_011526312.1:p.Val500Ala
XR_001753685.2:n.1616T>C
XR_001753686.2:n.1616T>C
NM_000527.5:c.1499T>C MANE Select NP_000518.1:p.Val500Ala
NM_001195798.2:c.1499T>C NP_001182727.1:p.Val500Ala
NM_001195799.2:c.1376T>C NP_001182728.1:p.Val459Ala
NM_001195800.2:c.995T>C NP_001182729.1:p.Val332Ala
NM_001195803.2:c.1118T>C NP_001182732.1:p.Val373Ala