Canonical Allele Identifier: CA2322779558

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128075C= , CM000681.2:g.11128075C=	GRCh38
NC_000019.9:g.11238751C= , CM000681.1:g.11238751C=	GRCh37
NC_000019.8:g.11099751C=	NCBI36
NG_009060.1:g.43695C= , LRG_274:g.43695C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2637C=	ENSP00000252444.6:p.Val879=
ENST00000559340.2:c.*448C=	ENSP00000453696.2:n.*448C=
ENST00000560467.2:c.2259C=	ENSP00000453513.2:p.Val753=
ENST00000558518.6:c.2379C= MANE Select	ENSP00000454071.1:p.Val793=
ENST00000252444.9:c.2633C=
ENST00000455727.6:c.1875C=	ENSP00000397829.2:p.Val625=
ENST00000535915.5:c.2256C=	ENSP00000440520.1:p.Val752=
ENST00000545707.5:c.1845C=	ENSP00000437639.1:p.Val615=
ENST00000557933.5:c.2379C=	ENSP00000453557.1:p.Val793=
ENST00000558013.5:c.2379C=	ENSP00000453346.1:p.Val793=
ENST00000558518.5:c.2379C=	ENSP00000454071.1:p.Val793=
ENST00000560628.1:n.108+421C=
NM_000527.4:c.2379C= , LRG_274t1:c.2379C=	NP_000518.1:p.Val793=
NM_001195798.1:c.2379C=	NP_001182727.1:p.Val793=
NM_001195799.1:c.2256C=	NP_001182728.1:p.Val752=
NM_001195800.1:c.1875C=	NP_001182729.1:p.Val625=
NM_001195803.1:c.1845C=	NP_001182732.1:p.Val615=
XM_011528010.1:c.2312-1438C=	XP_011526312.1:n.2312-1438C=
XM_011528011.1:c.1998C=	XP_011526313.1:p.Val666=
XR_244074.2:n.2389C=
XM_011528010.2:c.2312-1438C=	XP_011526312.1:n.2312-1438C=
XR_001753685.2:n.2713C=
XR_001753686.2:n.2356C=
NM_000527.5:c.2379C= MANE Select	NP_000518.1:p.Val793=
NM_001195798.2:c.2379C=	NP_001182727.1:p.Val793=
NM_001195799.2:c.2256C=	NP_001182728.1:p.Val752=
NM_001195800.2:c.1875C=	NP_001182729.1:p.Val625=
NM_001195803.2:c.1845C=	NP_001182732.1:p.Val615=