Canonical Allele Identifier: CA2322780264

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129536G= , CM000681.2:g.11129536G=	GRCh38
NC_000019.9:g.11240212G= , CM000681.1:g.11240212G=	GRCh37
NC_000019.8:g.11101212G=	NCBI36
NG_009060.1:g.45156G= , LRG_274:g.45156G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2671G=	ENSP00000252444.6:p.Gly891=
ENST00000559340.2:c.*482G=	ENSP00000453696.2:n.*482G=
ENST00000560467.2:c.2293G=	ENSP00000453513.2:p.Gly765=
ENST00000558518.6:c.2413G= MANE Select	ENSP00000454071.1:p.Gly805=
ENST00000252444.9:c.2667G=
ENST00000455727.6:c.1909G=	ENSP00000397829.2:p.Gly637=
ENST00000535915.5:c.2290G=	ENSP00000440520.1:p.Gly764=
ENST00000545707.5:c.1879G=	ENSP00000437639.1:p.Gly627=
ENST00000557933.5:c.2475G=	ENSP00000453557.1:p.Trp825=
ENST00000558013.5:c.2413G=	ENSP00000453346.1:p.Gly805=
ENST00000558518.5:c.2413G=	ENSP00000454071.1:p.Gly805=
ENST00000560628.1:n.108+1882G=
NM_000527.4:c.2413G= , LRG_274t1:c.2413G=	NP_000518.1:p.Gly805=
NM_001195798.1:c.2413G=	NP_001182727.1:p.Gly805=
NM_001195799.1:c.2290G=	NP_001182728.1:p.Gly764=
NM_001195800.1:c.1909G=	NP_001182729.1:p.Gly637=
NM_001195803.1:c.1879G=	NP_001182732.1:p.Gly627=
XM_011528010.1:c.2335G=	XP_011526312.1:p.Gly779=
XM_011528011.1:c.2032G=	XP_011526313.1:p.Gly678=
XR_244074.2:n.2423G=
XM_011528010.2:c.2335G=	XP_011526312.1:p.Gly779=
XR_001753685.2:n.2747G=
XR_001753686.2:n.2390G=
NM_000527.5:c.2413G= MANE Select	NP_000518.1:p.Gly805=
NM_001195798.2:c.2413G=	NP_001182727.1:p.Gly805=
NM_001195799.2:c.2290G=	NP_001182728.1:p.Gly764=
NM_001195800.2:c.1909G=	NP_001182729.1:p.Gly637=
NM_001195803.2:c.1879G=	NP_001182732.1:p.Gly627=