Canonical Allele Identifier: CA2322773245

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116108C= , CM000681.2:g.11116108C=	GRCh38
NC_000019.9:g.11226784C= , CM000681.1:g.11226784C=	GRCh37
NC_000019.8:g.11087784C=	NCBI36
NG_009060.1:g.31728C= , LRG_274:g.31728C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.5:c.1601C= MANE Select	NP_000518.1:p.Thr534=
ENST00000558518.6:c.1601C= MANE Select	ENSP00000454071.1:p.Thr534=
NM_000527.4:c.1601C= , LRG_274t1:c.1601C=	NP_000518.1:p.Thr534=
NM_001195798.1:c.1601C=	NP_001182727.1:p.Thr534=
NM_001195798.2:c.1601C=	NP_001182727.1:p.Thr534=
NM_001195799.1:c.1478C=	NP_001182728.1:p.Thr493=
NM_001195799.2:c.1478C=	NP_001182728.1:p.Thr493=
NM_001195800.1:c.1097C=	NP_001182729.1:p.Thr366=
NM_001195800.2:c.1097C=	NP_001182729.1:p.Thr366=
NM_001195803.1:c.1220C=	NP_001182732.1:p.Thr407=
NM_001195803.2:c.1220C=	NP_001182732.1:p.Thr407=
ENST00000252444.10:c.1859C=	ENSP00000252444.6:p.Thr620=
ENST00000252444.9:c.1855C=
ENST00000455727.6:c.1097C=	ENSP00000397829.2:p.Thr366=
ENST00000535915.5:c.1478C=	ENSP00000440520.1:p.Thr493=
ENST00000545707.5:c.1220C=	ENSP00000437639.1:p.Thr407=
ENST00000557933.5:c.1601C=	ENSP00000453557.1:p.Thr534=
ENST00000558013.5:c.1601C=	ENSP00000453346.1:p.Thr534=
ENST00000558518.5:c.1601C=	ENSP00000454071.1:p.Thr534=
ENST00000559340.1:c.322C=
ENST00000559340.2:c.1601C=	ENSP00000453696.2:p.Thr534=
ENST00000560467.2:c.1481C=	ENSP00000453513.2:p.Thr494=
XM_011528010.1:c.1601C=	XP_011526312.1:p.Thr534=
XM_011528010.2:c.1601C=	XP_011526312.1:p.Thr534=
XM_011528011.1:c.1220C=	XP_011526313.1:p.Thr407=
XR_001753685.2:n.1718C=
XR_001753686.2:n.1718C=
XR_244074.2:n.1751C=