Canonical Allele Identifier: CA2322770228

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110671C= , CM000681.2:g.11110671C=	GRCh38
NC_000019.9:g.11221347C= , CM000681.1:g.11221347C=	GRCh37
NC_000019.8:g.11082347C=	NCBI36
NG_009060.1:g.26291C= , LRG_274:g.26291C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1218C=	ENSP00000252444.6:p.Asp406=
ENST00000559340.2:c.960C=	ENSP00000453696.2:p.Asp320=
ENST00000560467.2:c.941-843C=	ENSP00000453513.2:n.941-843C=
ENST00000558518.6:c.960C= MANE Select	ENSP00000454071.1:p.Asp320=
ENST00000252444.9:c.1214C=
ENST00000455727.6:c.456C=	ENSP00000397829.2:p.Asp152=
ENST00000535915.5:c.837C=	ENSP00000440520.1:p.Asp279=
ENST00000545707.5:c.579C=	ENSP00000437639.1:p.Asp193=
ENST00000557933.5:c.960C=	ENSP00000453557.1:p.Asp320=
ENST00000558013.5:c.960C=	ENSP00000453346.1:p.Asp320=
ENST00000558518.5:c.960C=	ENSP00000454071.1:p.Asp320=
ENST00000560467.1:c.541-843C=
NM_000527.4:c.960C= , LRG_274t1:c.960C=	NP_000518.1:p.Asp320=
NM_001195798.1:c.960C=	NP_001182727.1:p.Asp320=
NM_001195799.1:c.837C=	NP_001182728.1:p.Asp279=
NM_001195800.1:c.456C=	NP_001182729.1:p.Asp152=
NM_001195803.1:c.579C=	NP_001182732.1:p.Asp193=
XM_011528010.1:c.960C=	XP_011526312.1:p.Asp320=
XM_011528011.1:c.579C=	XP_011526313.1:p.Asp193=
XR_244074.2:n.1110C=
XM_011528010.2:c.960C=	XP_011526312.1:p.Asp320=
XR_001753685.2:n.1077C=
XR_001753686.2:n.1077C=
NM_000527.5:c.960C= MANE Select	NP_000518.1:p.Asp320=
NM_001195798.2:c.960C=	NP_001182727.1:p.Asp320=
NM_001195799.2:c.837C=	NP_001182728.1:p.Asp279=
NM_001195800.2:c.456C=	NP_001182729.1:p.Asp152=
NM_001195803.2:c.579C=	NP_001182732.1:p.Asp193=