Canonical Allele Identifier: CA2322779552

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128068C= , CM000681.2:g.11128068C=	GRCh38
NC_000019.9:g.11238744C= , CM000681.1:g.11238744C=	GRCh37
NC_000019.8:g.11099744C=	NCBI36
NG_009060.1:g.43688C= , LRG_274:g.43688C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2630C=	ENSP00000252444.6:p.Ser877=
ENST00000559340.2:c.*441C=	ENSP00000453696.2:n.*441C=
ENST00000560467.2:c.2252C=	ENSP00000453513.2:p.Ser751=
ENST00000558518.6:c.2372C= MANE Select	ENSP00000454071.1:p.Ser791=
ENST00000252444.9:c.2626C=
ENST00000455727.6:c.1868C=	ENSP00000397829.2:p.Ser623=
ENST00000535915.5:c.2249C=	ENSP00000440520.1:p.Ser750=
ENST00000545707.5:c.1838C=	ENSP00000437639.1:p.Ser613=
ENST00000557933.5:c.2372C=	ENSP00000453557.1:p.Ser791=
ENST00000558013.5:c.2372C=	ENSP00000453346.1:p.Ser791=
ENST00000558518.5:c.2372C=	ENSP00000454071.1:p.Ser791=
ENST00000560628.1:n.108+414C=
NM_000527.4:c.2372C= , LRG_274t1:c.2372C=	NP_000518.1:p.Ser791=
NM_001195798.1:c.2372C=	NP_001182727.1:p.Ser791=
NM_001195799.1:c.2249C=	NP_001182728.1:p.Ser750=
NM_001195800.1:c.1868C=	NP_001182729.1:p.Ser623=
NM_001195803.1:c.1838C=	NP_001182732.1:p.Ser613=
XM_011528010.1:c.2312-1445C=	XP_011526312.1:n.2312-1445C=
XM_011528011.1:c.1991C=	XP_011526313.1:p.Ser664=
XR_244074.2:n.2382C=
XM_011528010.2:c.2312-1445C=	XP_011526312.1:n.2312-1445C=
XR_001753685.2:n.2706C=
XR_001753686.2:n.2349C=
NM_000527.5:c.2372C= MANE Select	NP_000518.1:p.Ser791=
NM_001195798.2:c.2372C=	NP_001182727.1:p.Ser791=
NM_001195799.2:c.2249C=	NP_001182728.1:p.Ser750=
NM_001195800.2:c.1868C=	NP_001182729.1:p.Ser623=
NM_001195803.2:c.1838C=	NP_001182732.1:p.Ser613=