Canonical Allele Identifier: CA2322767368

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105325A= , CM000681.2:g.11105325A=	GRCh38
NC_000019.9:g.11216001A= , CM000681.1:g.11216001A=	GRCh37
NC_000019.8:g.11077001A=	NCBI36
NG_009060.1:g.20945A= , LRG_274:g.20945A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.677A=	ENSP00000252444.6:p.Glu226=
ENST00000559340.2:c.419A=	ENSP00000453696.2:p.Glu140=
ENST00000560467.2:c.419A=	ENSP00000453513.2:p.Glu140=
ENST00000558518.6:c.419A= MANE Select	ENSP00000454071.1:p.Glu140=
ENST00000252444.9:c.673A=
ENST00000455727.6:c.314-2067A=	ENSP00000397829.2:n.314-2067A=
ENST00000535915.5:c.296A=	ENSP00000440520.1:p.Glu99=
ENST00000545707.5:c.314-1240A=	ENSP00000437639.1:n.314-1240A=
ENST00000557933.5:c.419A=	ENSP00000453557.1:p.Glu140=
ENST00000558013.5:c.419A=	ENSP00000453346.1:p.Glu140=
ENST00000558518.5:c.419A=	ENSP00000454071.1:p.Glu140=
ENST00000560467.1:c.19A=
NM_000527.4:c.419A= , LRG_274t1:c.419A=	NP_000518.1:p.Glu140=
NM_001195798.1:c.419A=	NP_001182727.1:p.Glu140=
NM_001195799.1:c.296A=	NP_001182728.1:p.Glu99=
NM_001195800.1:c.314-2067A=	NP_001182729.1:n.314-2067A=
NM_001195803.1:c.314-1240A=	NP_001182732.1:n.314-1240A=
XM_011528010.1:c.419A=	XP_011526312.1:p.Glu140=
XM_011528011.1:c.314-1240A=	XP_011526313.1:n.314-1240A=
XR_244074.2:n.569A=
XM_011528010.2:c.419A=	XP_011526312.1:p.Glu140=
XR_001753685.2:n.536A=
XR_001753686.2:n.536A=
NM_000527.5:c.419A= MANE Select	NP_000518.1:p.Glu140=
NM_001195798.2:c.419A=	NP_001182727.1:p.Glu140=
NM_001195799.2:c.296A=	NP_001182728.1:p.Glu99=
NM_001195800.2:c.314-2067A=	NP_001182729.1:n.314-2067A=
NM_001195803.2:c.314-1240A=	NP_001182732.1:n.314-1240A=