Canonical Allele Identifier: CA2322780242
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129514G= , CM000681.2:g.11129514G= GRCh38
NC_000019.9:g.11240190G= , CM000681.1:g.11240190G= GRCh37
NC_000019.8:g.11101190G= NCBI36
NG_009060.1:g.45134G= , LRG_274:g.45134G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2649G= ENSP00000252444.6:p.Val883=
ENST00000559340.2:c.*460G= ENSP00000453696.2:n.*460G=
ENST00000560467.2:c.2271G= ENSP00000453513.2:p.Val757=
ENST00000558518.6:c.2391G= MANE Select ENSP00000454071.1:p.Val797=
ENST00000252444.9:c.2645G=
ENST00000455727.6:c.1887G= ENSP00000397829.2:p.Val629=
ENST00000535915.5:c.2268G= ENSP00000440520.1:p.Val756=
ENST00000545707.5:c.1857G= ENSP00000437639.1:p.Val619=
ENST00000557933.5:c.2453G= ENSP00000453557.1:p.Cys818=
ENST00000558013.5:c.2391G= ENSP00000453346.1:p.Val797=
ENST00000558518.5:c.2391G= ENSP00000454071.1:p.Val797=
ENST00000560628.1:n.108+1860G=
NM_000527.4:c.2391G= , LRG_274t1:c.2391G= NP_000518.1:p.Val797=
NM_001195798.1:c.2391G= NP_001182727.1:p.Val797=
NM_001195799.1:c.2268G= NP_001182728.1:p.Val756=
NM_001195800.1:c.1887G= NP_001182729.1:p.Val629=
NM_001195803.1:c.1857G= NP_001182732.1:p.Val619=
XM_011528010.1:c.2313G= XP_011526312.1:p.Val771=
XM_011528011.1:c.2010G= XP_011526313.1:p.Val670=
XR_244074.2:n.2401G=
XM_011528010.2:c.2313G= XP_011526312.1:p.Val771=
XR_001753685.2:n.2725G=
XR_001753686.2:n.2368G=
NM_000527.5:c.2391G= MANE Select NP_000518.1:p.Val797=
NM_001195798.2:c.2391G= NP_001182727.1:p.Val797=
NM_001195799.2:c.2268G= NP_001182728.1:p.Val756=
NM_001195800.2:c.1887G= NP_001182729.1:p.Val629=
NM_001195803.2:c.1857G= NP_001182732.1:p.Val619=