Canonical Allele Identifier: CA2322767327

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105279C= , CM000681.2:g.11105279C=	GRCh38
NC_000019.9:g.11215955C= , CM000681.1:g.11215955C=	GRCh37
NC_000019.8:g.11076955C=	NCBI36
NG_009060.1:g.20899C= , LRG_274:g.20899C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.631C=	ENSP00000252444.6:p.Gln211=
ENST00000559340.2:c.373C=	ENSP00000453696.2:p.Gln125=
ENST00000560467.2:c.373C=	ENSP00000453513.2:p.Gln125=
ENST00000558518.6:c.373C= MANE Select	ENSP00000454071.1:p.Gln125=
ENST00000252444.9:c.627C=
ENST00000455727.6:c.314-2113C=	ENSP00000397829.2:n.314-2113C=
ENST00000535915.5:c.250C=	ENSP00000440520.1:p.Gln84=
ENST00000545707.5:c.314-1286C=	ENSP00000437639.1:n.314-1286C=
ENST00000557933.5:c.373C=	ENSP00000453557.1:p.Gln125=
ENST00000558013.5:c.373C=	ENSP00000453346.1:p.Gln125=
ENST00000558518.5:c.373C=	ENSP00000454071.1:p.Gln125=
NM_000527.4:c.373C= , LRG_274t1:c.373C=	NP_000518.1:p.Gln125=
NM_001195798.1:c.373C=	NP_001182727.1:p.Gln125=
NM_001195799.1:c.250C=	NP_001182728.1:p.Gln84=
NM_001195800.1:c.314-2113C=	NP_001182729.1:n.314-2113C=
NM_001195803.1:c.314-1286C=	NP_001182732.1:n.314-1286C=
XM_011528010.1:c.373C=	XP_011526312.1:p.Gln125=
XM_011528011.1:c.314-1286C=	XP_011526313.1:n.314-1286C=
XR_244074.2:n.523C=
XM_011528010.2:c.373C=	XP_011526312.1:p.Gln125=
XR_001753685.2:n.490C=
XR_001753686.2:n.490C=
NM_000527.5:c.373C= MANE Select	NP_000518.1:p.Gln125=
NM_001195798.2:c.373C=	NP_001182727.1:p.Gln125=
NM_001195799.2:c.250C=	NP_001182728.1:p.Gln84=
NM_001195800.2:c.314-2113C=	NP_001182729.1:n.314-2113C=
NM_001195803.2:c.314-1286C=	NP_001182732.1:n.314-1286C=