Canonical Allele Identifier: CA2322779521
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128024T= , CM000681.2:g.11128024T= GRCh38
NC_000019.9:g.11238700T= , CM000681.1:g.11238700T= GRCh37
NC_000019.8:g.11099700T= NCBI36
NG_009060.1:g.43644T= , LRG_274:g.43644T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2586T= ENSP00000252444.6:p.Ala862=
ENST00000559340.2:c.*397T= ENSP00000453696.2:n.*397T=
ENST00000560467.2:c.2208T= ENSP00000453513.2:p.Ala736=
ENST00000558518.6:c.2328T= MANE Select ENSP00000454071.1:p.Ala776=
ENST00000252444.9:c.2582T=
ENST00000455727.6:c.1824T= ENSP00000397829.2:p.Ala608=
ENST00000535915.5:c.2205T= ENSP00000440520.1:p.Ala735=
ENST00000545707.5:c.1794T= ENSP00000437639.1:p.Ala598=
ENST00000557933.5:c.2328T= ENSP00000453557.1:p.Ala776=
ENST00000558013.5:c.2328T= ENSP00000453346.1:p.Ala776=
ENST00000558518.5:c.2328T= ENSP00000454071.1:p.Ala776=
ENST00000560628.1:n.108+370T=
NM_000527.4:c.2328T= , LRG_274t1:c.2328T= NP_000518.1:p.Ala776=
NM_001195798.1:c.2328T= NP_001182727.1:p.Ala776=
NM_001195799.1:c.2205T= NP_001182728.1:p.Ala735=
NM_001195800.1:c.1824T= NP_001182729.1:p.Ala608=
NM_001195803.1:c.1794T= NP_001182732.1:p.Ala598=
XM_011528010.1:c.2312-1489T= XP_011526312.1:n.2312-1489T=
XM_011528011.1:c.1947T= XP_011526313.1:p.Ala649=
XR_244074.2:n.2338T=
XM_011528010.2:c.2312-1489T= XP_011526312.1:n.2312-1489T=
XR_001753685.2:n.2662T=
XR_001753686.2:n.2305T=
NM_000527.5:c.2328T= MANE Select NP_000518.1:p.Ala776=
NM_001195798.2:c.2328T= NP_001182727.1:p.Ala776=
NM_001195799.2:c.2205T= NP_001182728.1:p.Ala735=
NM_001195800.2:c.1824T= NP_001182729.1:p.Ala608=
NM_001195803.2:c.1794T= NP_001182732.1:p.Ala598=