Canonical Allele Identifier: CA2322777254
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123312C= , CM000681.2:g.11123312C= GRCh38
NC_000019.9:g.11233988C= , CM000681.1:g.11233988C= GRCh37
NC_000019.8:g.11094988C= NCBI36
NG_009060.1:g.38932C= , LRG_274:g.38932C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2537C= ENSP00000252444.6:p.Thr846=
ENST00000559340.2:c.*348C= ENSP00000453696.2:n.*348C=
ENST00000560467.2:c.2159C= ENSP00000453513.2:p.Thr720=
ENST00000558518.6:c.2279C= MANE Select ENSP00000454071.1:p.Thr760=
ENST00000252444.9:c.2533C=
ENST00000455727.6:c.1775C= ENSP00000397829.2:p.Thr592=
ENST00000535915.5:c.2156C= ENSP00000440520.1:p.Thr719=
ENST00000545707.5:c.1745C= ENSP00000437639.1:p.Thr582=
ENST00000557933.5:c.2279C= ENSP00000453557.1:p.Thr760=
ENST00000558013.5:c.2279C= ENSP00000453346.1:p.Thr760=
ENST00000558518.5:c.2279C= ENSP00000454071.1:p.Thr760=
NM_000527.4:c.2279C= , LRG_274t1:c.2279C= NP_000518.1:p.Thr760=
NM_001195798.1:c.2279C= NP_001182727.1:p.Thr760=
NM_001195799.1:c.2156C= NP_001182728.1:p.Thr719=
NM_001195800.1:c.1775C= NP_001182729.1:p.Thr592=
NM_001195803.1:c.1745C= NP_001182732.1:p.Thr582=
XM_011528010.1:c.2279C= XP_011526312.1:p.Thr760=
XM_011528011.1:c.1898C= XP_011526313.1:p.Thr633=
XR_244074.2:n.2289C=
XM_011528010.2:c.2279C= XP_011526312.1:p.Thr760=
XR_001753685.2:n.2613C=
XR_001753686.2:n.2256C=
NM_000527.5:c.2279C= MANE Select NP_000518.1:p.Thr760=
NM_001195798.2:c.2279C= NP_001182727.1:p.Thr760=
NM_001195799.2:c.2156C= NP_001182728.1:p.Thr719=
NM_001195800.2:c.1775C= NP_001182729.1:p.Thr592=
NM_001195803.2:c.1745C= NP_001182732.1:p.Thr582=