Canonical Allele Identifier: CA2322780333
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129664C= , CM000681.2:g.11129664C= GRCh38
NC_000019.9:g.11240340C= , CM000681.1:g.11240340C= GRCh37
NC_000019.8:g.11101340C= NCBI36
NG_009060.1:g.45284C= , LRG_274:g.45284C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2799C= ENSP00000252444.6:p.Tyr933=
ENST00000559340.2:c.*610C= ENSP00000453696.2:n.*610C=
ENST00000560467.2:c.2421C= ENSP00000453513.2:p.Tyr807=
ENST00000558518.6:c.2541C= MANE Select ENSP00000454071.1:p.Tyr847=
ENST00000252444.9:c.2795C=
ENST00000455727.6:c.2037C= ENSP00000397829.2:p.Tyr679=
ENST00000535915.5:c.2418C= ENSP00000440520.1:p.Tyr806=
ENST00000545707.5:c.2007C= ENSP00000437639.1:p.Tyr669=
ENST00000557933.5:c.2603C= ENSP00000453557.1:p.Thr868=
ENST00000558013.5:c.2541C= ENSP00000453346.1:p.Tyr847=
ENST00000558518.5:c.2541C= ENSP00000454071.1:p.Tyr847=
ENST00000560628.1:n.108+2010C=
NM_000527.4:c.2541C= , LRG_274t1:c.2541C= NP_000518.1:p.Tyr847=
NM_001195798.1:c.2541C= NP_001182727.1:p.Tyr847=
NM_001195799.1:c.2418C= NP_001182728.1:p.Tyr806=
NM_001195800.1:c.2037C= NP_001182729.1:p.Tyr679=
NM_001195803.1:c.2007C= NP_001182732.1:p.Tyr669=
XM_011528010.1:c.2463C= XP_011526312.1:p.Tyr821=
XM_011528011.1:c.2160C= XP_011526313.1:p.Tyr720=
XM_011528010.2:c.2463C= XP_011526312.1:p.Tyr821=
XR_001753685.2:n.2875C=
XR_001753686.2:n.2518C=
NM_000527.5:c.2541C= MANE Select NP_000518.1:p.Tyr847=
NM_001195798.2:c.2541C= NP_001182727.1:p.Tyr847=
NM_001195799.2:c.2418C= NP_001182728.1:p.Tyr806=
NM_001195800.2:c.2037C= NP_001182729.1:p.Tyr679=
NM_001195803.2:c.2007C= NP_001182732.1:p.Tyr669=