Canonical Allele Identifier: CA2322777165

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123181G= , CM000681.2:g.11123181G=	GRCh38
NC_000019.9:g.11233857G= , CM000681.1:g.11233857G=	GRCh37
NC_000019.8:g.11094857G=	NCBI36
NG_009060.1:g.38801G= , LRG_274:g.38801G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2406G=	ENSP00000252444.6:p.Glu802=
ENST00000559340.2:c.*217G=	ENSP00000453696.2:n.*217G=
ENST00000560467.2:c.2028G=	ENSP00000453513.2:p.Glu676=
ENST00000558518.6:c.2148G= MANE Select	ENSP00000454071.1:p.Glu716=
ENST00000252444.9:c.2402G=
ENST00000455727.6:c.1644G=	ENSP00000397829.2:p.Glu548=
ENST00000535915.5:c.2025G=	ENSP00000440520.1:p.Glu675=
ENST00000545707.5:c.1614G=	ENSP00000437639.1:p.Glu538=
ENST00000557933.5:c.2148G=	ENSP00000453557.1:p.Glu716=
ENST00000558013.5:c.2148G=	ENSP00000453346.1:p.Glu716=
ENST00000558518.5:c.2148G=	ENSP00000454071.1:p.Glu716=
NM_000527.4:c.2148G= , LRG_274t1:c.2148G=	NP_000518.1:p.Glu716=
NM_001195798.1:c.2148G=	NP_001182727.1:p.Glu716=
NM_001195799.1:c.2025G=	NP_001182728.1:p.Glu675=
NM_001195800.1:c.1644G=	NP_001182729.1:p.Glu548=
NM_001195803.1:c.1614G=	NP_001182732.1:p.Glu538=
XM_011528010.1:c.2148G=	XP_011526312.1:p.Glu716=
XM_011528011.1:c.1767G=	XP_011526313.1:p.Glu589=
XR_244074.2:n.2158G=
XM_011528010.2:c.2148G=	XP_011526312.1:p.Glu716=
XR_001753685.2:n.2482G=
XR_001753686.2:n.2125G=
NM_000527.5:c.2148G= MANE Select	NP_000518.1:p.Glu716=
NM_001195798.2:c.2148G=	NP_001182727.1:p.Glu716=
NM_001195799.2:c.2025G=	NP_001182728.1:p.Glu675=
NM_001195800.2:c.1644G=	NP_001182729.1:p.Glu548=
NM_001195803.2:c.1614G=	NP_001182732.1:p.Glu538=