Canonical Allele Identifier: CA2322771754

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113370A= , CM000681.2:g.11113370A=	GRCh38
NC_000019.9:g.11224046A= , CM000681.1:g.11224046A=	GRCh37
NC_000019.8:g.11085046A=	NCBI36
NG_009060.1:g.28990A= , LRG_274:g.28990A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1537A=	ENSP00000252444.6:p.Arg513=
ENST00000559340.2:c.1279A=	ENSP00000453696.2:p.Arg427=
ENST00000560467.2:c.1159A=	ENSP00000453513.2:p.Arg387=
ENST00000558518.6:c.1279A= MANE Select	ENSP00000454071.1:p.Arg427=
ENST00000252444.9:c.1533A=
ENST00000455727.6:c.775A=	ENSP00000397829.2:p.Arg259=
ENST00000535915.5:c.1156A=	ENSP00000440520.1:p.Arg386=
ENST00000545707.5:c.898A=	ENSP00000437639.1:p.Arg300=
ENST00000557933.5:c.1279A=	ENSP00000453557.1:p.Arg427=
ENST00000558013.5:c.1279A=	ENSP00000453346.1:p.Arg427=
ENST00000558518.5:c.1279A=	ENSP00000454071.1:p.Arg427=
ENST00000560173.1:n.278A=
ENST00000560467.1:c.759A=
NM_000527.4:c.1279A= , LRG_274t1:c.1279A=	NP_000518.1:p.Arg427=
NM_001195798.1:c.1279A=	NP_001182727.1:p.Arg427=
NM_001195799.1:c.1156A=	NP_001182728.1:p.Arg386=
NM_001195800.1:c.775A=	NP_001182729.1:p.Arg259=
NM_001195803.1:c.898A=	NP_001182732.1:p.Arg300=
XM_011528010.1:c.1279A=	XP_011526312.1:p.Arg427=
XM_011528011.1:c.898A=	XP_011526313.1:p.Arg300=
XR_244074.2:n.1429A=
XM_011528010.2:c.1279A=	XP_011526312.1:p.Arg427=
XR_001753685.2:n.1396A=
XR_001753686.2:n.1396A=
NM_000527.5:c.1279A= MANE Select	NP_000518.1:p.Arg427=
NM_001195798.2:c.1279A=	NP_001182727.1:p.Arg427=
NM_001195799.2:c.1156A=	NP_001182728.1:p.Arg386=
NM_001195800.2:c.775A=	NP_001182729.1:p.Arg259=
NM_001195803.2:c.898A=	NP_001182732.1:p.Arg300=