Canonical Allele Identifier: CA2322777246
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123301C= , CM000681.2:g.11123301C= GRCh38
NC_000019.9:g.11233977C= , CM000681.1:g.11233977C= GRCh37
NC_000019.8:g.11094977C= NCBI36
NG_009060.1:g.38921C= , LRG_274:g.38921C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2526C= ENSP00000252444.6:p.Thr842=
ENST00000559340.2:c.*337C= ENSP00000453696.2:n.*337C=
ENST00000560467.2:c.2148C= ENSP00000453513.2:p.Thr716=
ENST00000558518.6:c.2268C= MANE Select ENSP00000454071.1:p.Thr756=
ENST00000252444.9:c.2522C=
ENST00000455727.6:c.1764C= ENSP00000397829.2:p.Thr588=
ENST00000535915.5:c.2145C= ENSP00000440520.1:p.Thr715=
ENST00000545707.5:c.1734C= ENSP00000437639.1:p.Thr578=
ENST00000557933.5:c.2268C= ENSP00000453557.1:p.Thr756=
ENST00000558013.5:c.2268C= ENSP00000453346.1:p.Thr756=
ENST00000558518.5:c.2268C= ENSP00000454071.1:p.Thr756=
NM_000527.4:c.2268C= , LRG_274t1:c.2268C= NP_000518.1:p.Thr756=
NM_001195798.1:c.2268C= NP_001182727.1:p.Thr756=
NM_001195799.1:c.2145C= NP_001182728.1:p.Thr715=
NM_001195800.1:c.1764C= NP_001182729.1:p.Thr588=
NM_001195803.1:c.1734C= NP_001182732.1:p.Thr578=
XM_011528010.1:c.2268C= XP_011526312.1:p.Thr756=
XM_011528011.1:c.1887C= XP_011526313.1:p.Thr629=
XR_244074.2:n.2278C=
XM_011528010.2:c.2268C= XP_011526312.1:p.Thr756=
XR_001753685.2:n.2602C=
XR_001753686.2:n.2245C=
NM_000527.5:c.2268C= MANE Select NP_000518.1:p.Thr756=
NM_001195798.2:c.2268C= NP_001182727.1:p.Thr756=
NM_001195799.2:c.2145C= NP_001182728.1:p.Thr715=
NM_001195800.2:c.1764C= NP_001182729.1:p.Thr588=
NM_001195803.2:c.1734C= NP_001182732.1:p.Thr578=