Canonical Allele Identifier: CA2322780217

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129462G= , CM000681.2:g.11129462G=	GRCh38
NC_000019.9:g.11240138G= , CM000681.1:g.11240138G=	GRCh37
NC_000019.8:g.11101138G=	NCBI36
NG_009060.1:g.45082G= , LRG_274:g.45082G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2648-51G=	ENSP00000252444.6:n.2648-51G=
ENST00000559340.2:c.*459-51G=	ENSP00000453696.2:n.*459-51G=
ENST00000560467.2:c.2270-51G=	ENSP00000453513.2:n.2270-51G=
ENST00000558518.6:c.2390-51G= MANE Select	ENSP00000454071.1:n.2390-51G=
ENST00000252444.9:c.2644-51G=
ENST00000455727.6:c.1886-51G=	ENSP00000397829.2:n.1886-51G=
ENST00000535915.5:c.2267-51G=	ENSP00000440520.1:n.2267-51G=
ENST00000545707.5:c.1856-51G=	ENSP00000437639.1:n.1856-51G=
ENST00000557933.5:c.2401G=	ENSP00000453557.1:p.Gly801=
ENST00000558013.5:c.2390-51G=	ENSP00000453346.1:n.2390-51G=
ENST00000558518.5:c.2390-51G=	ENSP00000454071.1:n.2390-51G=
ENST00000560628.1:n.108+1808G=
NM_000527.4:c.2390-51G= , LRG_274t1:c.2390-51G=	NP_000518.1:n.2390-51G=
NM_001195798.1:c.2390-51G=	NP_001182727.1:n.2390-51G=
NM_001195799.1:c.2267-51G=	NP_001182728.1:n.2267-51G=
NM_001195800.1:c.1886-51G=	NP_001182729.1:n.1886-51G=
NM_001195803.1:c.1856-51G=	NP_001182732.1:n.1856-51G=
XM_011528010.1:c.2312-51G=	XP_011526312.1:n.2312-51G=
XM_011528011.1:c.2009-51G=	XP_011526313.1:n.2009-51G=
XR_244074.2:n.2400-51G=
XM_011528010.2:c.2312-51G=	XP_011526312.1:n.2312-51G=
XR_001753685.2:n.2724-51G=
XR_001753686.2:n.2367-51G=
NM_000527.5:c.2390-51G= MANE Select	NP_000518.1:n.2390-51G=
NM_001195798.2:c.2390-51G=	NP_001182727.1:n.2390-51G=
NM_001195799.2:c.2267-51G=	NP_001182728.1:n.2267-51G=
NM_001195800.2:c.1886-51G=	NP_001182729.1:n.1886-51G=
NM_001195803.2:c.1856-51G=	NP_001182732.1:n.1856-51G=