Canonical Allele Identifier: CA2322771785

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113409A= , CM000681.2:g.11113409A=	GRCh38
NC_000019.9:g.11224085A= , CM000681.1:g.11224085A=	GRCh37
NC_000019.8:g.11085085A=	NCBI36
NG_009060.1:g.29029A= , LRG_274:g.29029A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1576A=	ENSP00000252444.6:p.Arg526=
ENST00000559340.2:c.1318A=	ENSP00000453696.2:p.Arg440=
ENST00000560467.2:c.1198A=	ENSP00000453513.2:p.Arg400=
ENST00000558518.6:c.1318A= MANE Select	ENSP00000454071.1:p.Arg440=
ENST00000252444.9:c.1572A=
ENST00000455727.6:c.814A=	ENSP00000397829.2:p.Arg272=
ENST00000535915.5:c.1195A=	ENSP00000440520.1:p.Arg399=
ENST00000545707.5:c.937A=	ENSP00000437639.1:p.Arg313=
ENST00000557933.5:c.1318A=	ENSP00000453557.1:p.Arg440=
ENST00000558013.5:c.1318A=	ENSP00000453346.1:p.Arg440=
ENST00000558518.5:c.1318A=	ENSP00000454071.1:p.Arg440=
ENST00000559340.1:c.39A=
ENST00000560173.1:n.317A=
ENST00000560467.1:c.798A=
NM_000527.4:c.1318A= , LRG_274t1:c.1318A=	NP_000518.1:p.Arg440=
NM_001195798.1:c.1318A=	NP_001182727.1:p.Arg440=
NM_001195799.1:c.1195A=	NP_001182728.1:p.Arg399=
NM_001195800.1:c.814A=	NP_001182729.1:p.Arg272=
NM_001195803.1:c.937A=	NP_001182732.1:p.Arg313=
XM_011528010.1:c.1318A=	XP_011526312.1:p.Arg440=
XM_011528011.1:c.937A=	XP_011526313.1:p.Arg313=
XR_244074.2:n.1468A=
XM_011528010.2:c.1318A=	XP_011526312.1:p.Arg440=
XR_001753685.2:n.1435A=
XR_001753686.2:n.1435A=
NM_000527.5:c.1318A= MANE Select	NP_000518.1:p.Arg440=
NM_001195798.2:c.1318A=	NP_001182727.1:p.Arg440=
NM_001195799.2:c.1195A=	NP_001182728.1:p.Arg399=
NM_001195800.2:c.814A=	NP_001182729.1:p.Arg272=
NM_001195803.2:c.937A=	NP_001182732.1:p.Arg313=