Canonical Allele Identifier: CA2322770310

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110767C= , CM000681.2:g.11110767C=	GRCh38
NC_000019.9:g.11221443C= , CM000681.1:g.11221443C=	GRCh37
NC_000019.8:g.11082443C=	NCBI36
NG_009060.1:g.26387C= , LRG_274:g.26387C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1314C=	ENSP00000252444.6:p.Cys438=
ENST00000559340.2:c.1056C=	ENSP00000453696.2:p.Cys352=
ENST00000560467.2:c.941-747C=	ENSP00000453513.2:n.941-747C=
ENST00000558518.6:c.1056C= MANE Select	ENSP00000454071.1:p.Cys352=
ENST00000252444.9:c.1310C=
ENST00000455727.6:c.552C=	ENSP00000397829.2:p.Cys184=
ENST00000535915.5:c.933C=	ENSP00000440520.1:p.Cys311=
ENST00000545707.5:c.675C=	ENSP00000437639.1:p.Cys225=
ENST00000557933.5:c.1056C=	ENSP00000453557.1:p.Cys352=
ENST00000558013.5:c.1056C=	ENSP00000453346.1:p.Cys352=
ENST00000558518.5:c.1056C=	ENSP00000454071.1:p.Cys352=
ENST00000560173.1:n.55C=
ENST00000560467.1:c.541-747C=
NM_000527.4:c.1056C= , LRG_274t1:c.1056C=	NP_000518.1:p.Cys352=
NM_001195798.1:c.1056C=	NP_001182727.1:p.Cys352=
NM_001195799.1:c.933C=	NP_001182728.1:p.Cys311=
NM_001195800.1:c.552C=	NP_001182729.1:p.Cys184=
NM_001195803.1:c.675C=	NP_001182732.1:p.Cys225=
XM_011528010.1:c.1056C=	XP_011526312.1:p.Cys352=
XM_011528011.1:c.675C=	XP_011526313.1:p.Cys225=
XR_244074.2:n.1206C=
XM_011528010.2:c.1056C=	XP_011526312.1:p.Cys352=
XR_001753685.2:n.1173C=
XR_001753686.2:n.1173C=
NM_000527.5:c.1056C= MANE Select	NP_000518.1:p.Cys352=
NM_001195798.2:c.1056C=	NP_001182727.1:p.Cys352=
NM_001195799.2:c.933C=	NP_001182728.1:p.Cys311=
NM_001195800.2:c.552C=	NP_001182729.1:p.Cys184=
NM_001195803.2:c.675C=	NP_001182732.1:p.Cys225=