Canonical Allele Identifier: CA2322775376

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120138C= , CM000681.2:g.11120138C=	GRCh38
NC_000019.9:g.11230814C= , CM000681.1:g.11230814C=	GRCh37
NC_000019.8:g.11091814C=	NCBI36
NG_009060.1:g.35758C= , LRG_274:g.35758C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2150C=	ENSP00000252444.6:p.Ala717=
ENST00000559340.2:c.1752C=	ENSP00000453696.2:p.Cys584=
ENST00000560467.2:c.1772C=	ENSP00000453513.2:p.Ala591=
ENST00000558518.6:c.1892C= MANE Select	ENSP00000454071.1:p.Ala631=
ENST00000252444.9:c.2146C=
ENST00000455727.6:c.1388C=	ENSP00000397829.2:p.Ala463=
ENST00000535915.5:c.1769C=	ENSP00000440520.1:p.Ala590=
ENST00000545707.5:c.1511C=	ENSP00000437639.1:p.Ala504=
ENST00000557933.5:c.1892C=	ENSP00000453557.1:p.Ala631=
ENST00000558013.5:c.1892C=	ENSP00000453346.1:p.Ala631=
ENST00000558518.5:c.1892C=	ENSP00000454071.1:p.Ala631=
ENST00000559340.1:c.473C=
NM_000527.4:c.1892C= , LRG_274t1:c.1892C=	NP_000518.1:p.Ala631=
NM_001195798.1:c.1892C=	NP_001182727.1:p.Ala631=
NM_001195799.1:c.1769C=	NP_001182728.1:p.Ala590=
NM_001195800.1:c.1388C=	NP_001182729.1:p.Ala463=
NM_001195803.1:c.1511C=	NP_001182732.1:p.Ala504=
XM_011528010.1:c.1892C=	XP_011526312.1:p.Ala631=
XM_011528011.1:c.1511C=	XP_011526313.1:p.Ala504=
XR_244074.2:n.1902C=
XM_011528010.2:c.1892C=	XP_011526312.1:p.Ala631=
XR_001753685.2:n.2009C=
XR_001753686.2:n.1869C=
NM_000527.5:c.1892C= MANE Select	NP_000518.1:p.Ala631=
NM_001195798.2:c.1892C=	NP_001182727.1:p.Ala631=
NM_001195799.2:c.1769C=	NP_001182728.1:p.Ala590=
NM_001195800.2:c.1388C=	NP_001182729.1:p.Ala463=
NM_001195803.2:c.1511C=	NP_001182732.1:p.Ala504=