Canonical Allele Identifier: CA2322767377

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105335C= , CM000681.2:g.11105335C=	GRCh38
NC_000019.9:g.11216011C= , CM000681.1:g.11216011C=	GRCh37
NC_000019.8:g.11077011C=	NCBI36
NG_009060.1:g.20955C= , LRG_274:g.20955C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.687C=	ENSP00000252444.6:p.Cys229=
ENST00000559340.2:c.429C=	ENSP00000453696.2:p.Cys143=
ENST00000560467.2:c.429C=	ENSP00000453513.2:p.Cys143=
ENST00000558518.6:c.429C= MANE Select	ENSP00000454071.1:p.Cys143=
ENST00000252444.9:c.683C=
ENST00000455727.6:c.314-2057C=	ENSP00000397829.2:n.314-2057C=
ENST00000535915.5:c.306C=	ENSP00000440520.1:p.Cys102=
ENST00000545707.5:c.314-1230C=	ENSP00000437639.1:n.314-1230C=
ENST00000557933.5:c.429C=	ENSP00000453557.1:p.Cys143=
ENST00000558013.5:c.429C=	ENSP00000453346.1:p.Cys143=
ENST00000558518.5:c.429C=	ENSP00000454071.1:p.Cys143=
ENST00000560467.1:c.29C=
NM_000527.4:c.429C= , LRG_274t1:c.429C=	NP_000518.1:p.Cys143=
NM_001195798.1:c.429C=	NP_001182727.1:p.Cys143=
NM_001195799.1:c.306C=	NP_001182728.1:p.Cys102=
NM_001195800.1:c.314-2057C=	NP_001182729.1:n.314-2057C=
NM_001195803.1:c.314-1230C=	NP_001182732.1:n.314-1230C=
XM_011528010.1:c.429C=	XP_011526312.1:p.Cys143=
XM_011528011.1:c.314-1230C=	XP_011526313.1:n.314-1230C=
XR_244074.2:n.579C=
XM_011528010.2:c.429C=	XP_011526312.1:p.Cys143=
XR_001753685.2:n.546C=
XR_001753686.2:n.546C=
NM_000527.5:c.429C= MANE Select	NP_000518.1:p.Cys143=
NM_001195798.2:c.429C=	NP_001182727.1:p.Cys143=
NM_001195799.2:c.306C=	NP_001182728.1:p.Cys102=
NM_001195800.2:c.314-2057C=	NP_001182729.1:n.314-2057C=
NM_001195803.2:c.314-1230C=	NP_001182732.1:n.314-1230C=