Canonical Allele Identifier: CA2322771896

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113560G= , CM000681.2:g.11113560G=	GRCh38
NC_000019.9:g.11224236G= , CM000681.1:g.11224236G=	GRCh37
NC_000019.8:g.11085236G=	NCBI36
NG_009060.1:g.29180G= , LRG_274:g.29180G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1642G=	ENSP00000252444.6:p.Val548=
ENST00000559340.2:c.1384G=	ENSP00000453696.2:p.Val462=
ENST00000560467.2:c.1264G=	ENSP00000453513.2:p.Val422=
ENST00000558518.6:c.1384G= MANE Select	ENSP00000454071.1:p.Val462=
ENST00000252444.9:c.1638G=
ENST00000455727.6:c.880G=	ENSP00000397829.2:p.Val294=
ENST00000535915.5:c.1261G=	ENSP00000440520.1:p.Val421=
ENST00000545707.5:c.1003G=	ENSP00000437639.1:p.Val335=
ENST00000557933.5:c.1384G=	ENSP00000453557.1:p.Val462=
ENST00000558013.5:c.1384G=	ENSP00000453346.1:p.Val462=
ENST00000558518.5:c.1384G=	ENSP00000454071.1:p.Val462=
ENST00000559340.1:c.105G=
ENST00000560467.1:c.864G=
NM_000527.4:c.1384G= , LRG_274t1:c.1384G=	NP_000518.1:p.Val462=
NM_001195798.1:c.1384G=	NP_001182727.1:p.Val462=
NM_001195799.1:c.1261G=	NP_001182728.1:p.Val421=
NM_001195800.1:c.880G=	NP_001182729.1:p.Val294=
NM_001195803.1:c.1003G=	NP_001182732.1:p.Val335=
XM_011528010.1:c.1384G=	XP_011526312.1:p.Val462=
XM_011528011.1:c.1003G=	XP_011526313.1:p.Val335=
XR_244074.2:n.1534G=
XM_011528010.2:c.1384G=	XP_011526312.1:p.Val462=
XR_001753685.2:n.1501G=
XR_001753686.2:n.1501G=
NM_000527.5:c.1384G= MANE Select	NP_000518.1:p.Val462=
NM_001195798.2:c.1384G=	NP_001182727.1:p.Val462=
NM_001195799.2:c.1261G=	NP_001182728.1:p.Val421=
NM_001195800.2:c.880G=	NP_001182729.1:p.Val294=
NM_001195803.2:c.1003G=	NP_001182732.1:p.Val335=