Canonical Allele Identifier: CA2322775432

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120212C= , CM000681.2:g.11120212C=	GRCh38
NC_000019.9:g.11230888C= , CM000681.1:g.11230888C=	GRCh37
NC_000019.8:g.11091888C=	NCBI36
NG_009060.1:g.35832C= , LRG_274:g.35832C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2224C=	ENSP00000252444.6:p.His742=
ENST00000559340.2:c.*35C=	ENSP00000453696.2:n.*35C=
ENST00000560467.2:c.1846C=	ENSP00000453513.2:p.His616=
ENST00000558518.6:c.1966C= MANE Select	ENSP00000454071.1:p.His656=
ENST00000252444.9:c.2220C=
ENST00000455727.6:c.1462C=	ENSP00000397829.2:p.His488=
ENST00000535915.5:c.1843C=	ENSP00000440520.1:p.His615=
ENST00000545707.5:c.1585C=	ENSP00000437639.1:p.His529=
ENST00000557933.5:c.1966C=	ENSP00000453557.1:p.His656=
ENST00000558013.5:c.1966C=	ENSP00000453346.1:p.His656=
ENST00000558518.5:c.1966C=	ENSP00000454071.1:p.His656=
ENST00000559340.1:c.547C=
NM_000527.4:c.1966C= , LRG_274t1:c.1966C=	NP_000518.1:p.His656=
NM_001195798.1:c.1966C=	NP_001182727.1:p.His656=
NM_001195799.1:c.1843C=	NP_001182728.1:p.His615=
NM_001195800.1:c.1462C=	NP_001182729.1:p.His488=
NM_001195803.1:c.1585C=	NP_001182732.1:p.His529=
XM_011528010.1:c.1966C=	XP_011526312.1:p.His656=
XM_011528011.1:c.1585C=	XP_011526313.1:p.His529=
XR_244074.2:n.1976C=
XM_011528010.2:c.1966C=	XP_011526312.1:p.His656=
XR_001753685.2:n.2083C=
XR_001753686.2:n.1943C=
NM_000527.5:c.1966C= MANE Select	NP_000518.1:p.His656=
NM_001195798.2:c.1966C=	NP_001182727.1:p.His656=
NM_001195799.2:c.1843C=	NP_001182728.1:p.His615=
NM_001195800.2:c.1462C=	NP_001182729.1:p.His488=
NM_001195803.2:c.1585C=	NP_001182732.1:p.His529=