Canonical Allele Identifier: CA2322773754

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116988C= , CM000681.2:g.11116988C=	GRCh38
NC_000019.9:g.11227664C= , CM000681.1:g.11227664C=	GRCh37
NC_000019.8:g.11088664C=	NCBI36
NG_009060.1:g.32608C= , LRG_274:g.32608C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2093C=	ENSP00000252444.6:p.Ala698=
ENST00000559340.2:c.1705+776C=	ENSP00000453696.2:n.1705+776C=
ENST00000560467.2:c.1715C=	ENSP00000453513.2:p.Ala572=
ENST00000558518.6:c.1835C= MANE Select	ENSP00000454071.1:p.Ala612=
ENST00000252444.9:c.2089C=
ENST00000455727.6:c.1331C=	ENSP00000397829.2:p.Ala444=
ENST00000535915.5:c.1712C=	ENSP00000440520.1:p.Ala571=
ENST00000545707.5:c.1454C=	ENSP00000437639.1:p.Ala485=
ENST00000557933.5:c.1835C=	ENSP00000453557.1:p.Ala612=
ENST00000558013.5:c.1835C=	ENSP00000453346.1:p.Ala612=
ENST00000558518.5:c.1835C=	ENSP00000454071.1:p.Ala612=
ENST00000559340.1:c.426+776C=
NM_000527.4:c.1835C= , LRG_274t1:c.1835C=	NP_000518.1:p.Ala612=
NM_001195798.1:c.1835C=	NP_001182727.1:p.Ala612=
NM_001195799.1:c.1712C=	NP_001182728.1:p.Ala571=
NM_001195800.1:c.1331C=	NP_001182729.1:p.Ala444=
NM_001195803.1:c.1454C=	NP_001182732.1:p.Ala485=
XM_011528010.1:c.1835C=	XP_011526312.1:p.Ala612=
XM_011528011.1:c.1454C=	XP_011526313.1:p.Ala485=
XR_244074.2:n.1855+776C=
XM_011528010.2:c.1835C=	XP_011526312.1:p.Ala612=
XR_001753685.2:n.1952C=
XR_001753686.2:n.1822+776C=
NM_000527.5:c.1835C= MANE Select	NP_000518.1:p.Ala612=
NM_001195798.2:c.1835C=	NP_001182727.1:p.Ala612=
NM_001195799.2:c.1712C=	NP_001182728.1:p.Ala571=
NM_001195800.2:c.1331C=	NP_001182729.1:p.Ala444=
NM_001195803.2:c.1454C=	NP_001182732.1:p.Ala485=