Canonical Allele Identifier: CA2322775360

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120120A= , CM000681.2:g.11120120A=	GRCh38
NC_000019.9:g.11230796A= , CM000681.1:g.11230796A=	GRCh37
NC_000019.8:g.11091796A=	NCBI36
NG_009060.1:g.35740A= , LRG_274:g.35740A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2132A=	ENSP00000252444.6:p.Asn711=
ENST00000559340.2:c.1734A=	ENSP00000453696.2:p.Gln578=
ENST00000560467.2:c.1754A=	ENSP00000453513.2:p.Asn585=
ENST00000558518.6:c.1874A= MANE Select	ENSP00000454071.1:p.Asn625=
ENST00000252444.9:c.2128A=
ENST00000455727.6:c.1370A=	ENSP00000397829.2:p.Asn457=
ENST00000535915.5:c.1751A=	ENSP00000440520.1:p.Asn584=
ENST00000545707.5:c.1493A=	ENSP00000437639.1:p.Asn498=
ENST00000557933.5:c.1874A=	ENSP00000453557.1:p.Asn625=
ENST00000558013.5:c.1874A=	ENSP00000453346.1:p.Asn625=
ENST00000558518.5:c.1874A=	ENSP00000454071.1:p.Asn625=
ENST00000559340.1:c.455A=
NM_000527.4:c.1874A= , LRG_274t1:c.1874A=	NP_000518.1:p.Asn625=
NM_001195798.1:c.1874A=	NP_001182727.1:p.Asn625=
NM_001195799.1:c.1751A=	NP_001182728.1:p.Asn584=
NM_001195800.1:c.1370A=	NP_001182729.1:p.Asn457=
NM_001195803.1:c.1493A=	NP_001182732.1:p.Asn498=
XM_011528010.1:c.1874A=	XP_011526312.1:p.Asn625=
XM_011528011.1:c.1493A=	XP_011526313.1:p.Asn498=
XR_244074.2:n.1884A=
XM_011528010.2:c.1874A=	XP_011526312.1:p.Asn625=
XR_001753685.2:n.1991A=
XR_001753686.2:n.1851A=
NM_000527.5:c.1874A= MANE Select	NP_000518.1:p.Asn625=
NM_001195798.2:c.1874A=	NP_001182727.1:p.Asn625=
NM_001195799.2:c.1751A=	NP_001182728.1:p.Asn584=
NM_001195800.2:c.1370A=	NP_001182729.1:p.Asn457=
NM_001195803.2:c.1493A=	NP_001182732.1:p.Asn498=