Canonical Allele Identifier: CA2322770735
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111572T= , CM000681.2:g.11111572T= GRCh38
NC_000019.9:g.11222248T= , CM000681.1:g.11222248T= GRCh37
NC_000019.8:g.11083248T= NCBI36
NG_009060.1:g.27192T= , LRG_274:g.27192T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1377T= ENSP00000252444.6:p.Gly459=
ENST00000559340.2:c.1119T= ENSP00000453696.2:p.Gly373=
ENST00000560467.2:c.999T= ENSP00000453513.2:p.Gly333=
ENST00000558518.6:c.1119T= MANE Select ENSP00000454071.1:p.Gly373=
ENST00000252444.9:c.1373T=
ENST00000455727.6:c.615T= ENSP00000397829.2:p.Gly205=
ENST00000535915.5:c.996T= ENSP00000440520.1:p.Gly332=
ENST00000545707.5:c.738T= ENSP00000437639.1:p.Gly246=
ENST00000557933.5:c.1119T= ENSP00000453557.1:p.Gly373=
ENST00000558013.5:c.1119T= ENSP00000453346.1:p.Gly373=
ENST00000558518.5:c.1119T= ENSP00000454071.1:p.Gly373=
ENST00000560173.1:n.118T=
ENST00000560467.1:c.599T=
NM_000527.4:c.1119T= , LRG_274t1:c.1119T= NP_000518.1:p.Gly373=
NM_001195798.1:c.1119T= NP_001182727.1:p.Gly373=
NM_001195799.1:c.996T= NP_001182728.1:p.Gly332=
NM_001195800.1:c.615T= NP_001182729.1:p.Gly205=
NM_001195803.1:c.738T= NP_001182732.1:p.Gly246=
XM_011528010.1:c.1119T= XP_011526312.1:p.Gly373=
XM_011528011.1:c.738T= XP_011526313.1:p.Gly246=
XR_244074.2:n.1269T=
XM_011528010.2:c.1119T= XP_011526312.1:p.Gly373=
XR_001753685.2:n.1236T=
XR_001753686.2:n.1236T=
NM_000527.5:c.1119T= MANE Select NP_000518.1:p.Gly373=
NM_001195798.2:c.1119T= NP_001182727.1:p.Gly373=
NM_001195799.2:c.996T= NP_001182728.1:p.Gly332=
NM_001195800.2:c.615T= NP_001182729.1:p.Gly205=
NM_001195803.2:c.738T= NP_001182732.1:p.Gly246=