Canonical Allele Identifier: CA2322775416

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120196G= , CM000681.2:g.11120196G=	GRCh38
NC_000019.9:g.11230872G= , CM000681.1:g.11230872G=	GRCh37
NC_000019.8:g.11091872G=	NCBI36
NG_009060.1:g.35816G= , LRG_274:g.35816G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2208G=	ENSP00000252444.6:p.Glu736=
ENST00000559340.2:c.*19G=	ENSP00000453696.2:n.*19G=
ENST00000560467.2:c.1830G=	ENSP00000453513.2:p.Glu610=
ENST00000558518.6:c.1950G= MANE Select	ENSP00000454071.1:p.Glu650=
ENST00000252444.9:c.2204G=
ENST00000455727.6:c.1446G=	ENSP00000397829.2:p.Glu482=
ENST00000535915.5:c.1827G=	ENSP00000440520.1:p.Glu609=
ENST00000545707.5:c.1569G=	ENSP00000437639.1:p.Glu523=
ENST00000557933.5:c.1950G=	ENSP00000453557.1:p.Glu650=
ENST00000558013.5:c.1950G=	ENSP00000453346.1:p.Glu650=
ENST00000558518.5:c.1950G=	ENSP00000454071.1:p.Glu650=
ENST00000559340.1:c.531G=
NM_000527.4:c.1950G= , LRG_274t1:c.1950G=	NP_000518.1:p.Glu650=
NM_001195798.1:c.1950G=	NP_001182727.1:p.Glu650=
NM_001195799.1:c.1827G=	NP_001182728.1:p.Glu609=
NM_001195800.1:c.1446G=	NP_001182729.1:p.Glu482=
NM_001195803.1:c.1569G=	NP_001182732.1:p.Glu523=
XM_011528010.1:c.1950G=	XP_011526312.1:p.Glu650=
XM_011528011.1:c.1569G=	XP_011526313.1:p.Glu523=
XR_244074.2:n.1960G=
XM_011528010.2:c.1950G=	XP_011526312.1:p.Glu650=
XR_001753685.2:n.2067G=
XR_001753686.2:n.1927G=
NM_000527.5:c.1950G= MANE Select	NP_000518.1:p.Glu650=
NM_001195798.2:c.1950G=	NP_001182727.1:p.Glu650=
NM_001195799.2:c.1827G=	NP_001182728.1:p.Glu609=
NM_001195800.2:c.1446G=	NP_001182729.1:p.Glu482=
NM_001195803.2:c.1569G=	NP_001182732.1:p.Glu523=