Canonical Allele Identifier: CA2322770247

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110690C= , CM000681.2:g.11110690C=	GRCh38
NC_000019.9:g.11221366C= , CM000681.1:g.11221366C=	GRCh37
NC_000019.8:g.11082366C=	NCBI36
NG_009060.1:g.26310C= , LRG_274:g.26310C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.5:c.979C= MANE Select	NP_000518.1:p.His327=
ENST00000558518.6:c.979C= MANE Select	ENSP00000454071.1:p.His327=
NM_000527.4:c.979C= , LRG_274t1:c.979C=	NP_000518.1:p.His327=
NM_001195798.1:c.979C=	NP_001182727.1:p.His327=
NM_001195798.2:c.979C=	NP_001182727.1:p.His327=
NM_001195799.1:c.856C=	NP_001182728.1:p.His286=
NM_001195799.2:c.856C=	NP_001182728.1:p.His286=
NM_001195800.1:c.475C=	NP_001182729.1:p.His159=
NM_001195800.2:c.475C=	NP_001182729.1:p.His159=
NM_001195803.1:c.598C=	NP_001182732.1:p.His200=
NM_001195803.2:c.598C=	NP_001182732.1:p.His200=
ENST00000252444.10:c.1237C=	ENSP00000252444.6:p.His413=
ENST00000252444.9:c.1233C=
ENST00000455727.6:c.475C=	ENSP00000397829.2:p.His159=
ENST00000535915.5:c.856C=	ENSP00000440520.1:p.His286=
ENST00000545707.5:c.598C=	ENSP00000437639.1:p.His200=
ENST00000557933.5:c.979C=	ENSP00000453557.1:p.His327=
ENST00000558013.5:c.979C=	ENSP00000453346.1:p.His327=
ENST00000558518.5:c.979C=	ENSP00000454071.1:p.His327=
ENST00000559340.2:c.979C=	ENSP00000453696.2:p.His327=
ENST00000560467.1:c.541-824C=
ENST00000560467.2:c.941-824C=	ENSP00000453513.2:n.941-824C=
XM_011528010.1:c.979C=	XP_011526312.1:p.His327=
XM_011528010.2:c.979C=	XP_011526312.1:p.His327=
XM_011528011.1:c.598C=	XP_011526313.1:p.His200=
XR_001753685.2:n.1096C=
XR_001753686.2:n.1096C=
XR_244074.2:n.1129C=