Canonical Allele Identifier: CA2322767361

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105316G= , CM000681.2:g.11105316G=	GRCh38
NC_000019.9:g.11215992G= , CM000681.1:g.11215992G=	GRCh37
NC_000019.8:g.11076992G=	NCBI36
NG_009060.1:g.20936G= , LRG_274:g.20936G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.668G=	ENSP00000252444.6:p.Gly223=
ENST00000559340.2:c.410G=	ENSP00000453696.2:p.Gly137=
ENST00000560467.2:c.410G=	ENSP00000453513.2:p.Gly137=
ENST00000558518.6:c.410G= MANE Select	ENSP00000454071.1:p.Gly137=
ENST00000252444.9:c.664G=
ENST00000455727.6:c.314-2076G=	ENSP00000397829.2:n.314-2076G=
ENST00000535915.5:c.287G=	ENSP00000440520.1:p.Gly96=
ENST00000545707.5:c.314-1249G=	ENSP00000437639.1:n.314-1249G=
ENST00000557933.5:c.410G=	ENSP00000453557.1:p.Gly137=
ENST00000558013.5:c.410G=	ENSP00000453346.1:p.Gly137=
ENST00000558518.5:c.410G=	ENSP00000454071.1:p.Gly137=
ENST00000560467.1:c.10G=
NM_000527.4:c.410G= , LRG_274t1:c.410G=	NP_000518.1:p.Gly137=
NM_001195798.1:c.410G=	NP_001182727.1:p.Gly137=
NM_001195799.1:c.287G=	NP_001182728.1:p.Gly96=
NM_001195800.1:c.314-2076G=	NP_001182729.1:n.314-2076G=
NM_001195803.1:c.314-1249G=	NP_001182732.1:n.314-1249G=
XM_011528010.1:c.410G=	XP_011526312.1:p.Gly137=
XM_011528011.1:c.314-1249G=	XP_011526313.1:n.314-1249G=
XR_244074.2:n.560G=
XM_011528010.2:c.410G=	XP_011526312.1:p.Gly137=
XR_001753685.2:n.527G=
XR_001753686.2:n.527G=
NM_000527.5:c.410G= MANE Select	NP_000518.1:p.Gly137=
NM_001195798.2:c.410G=	NP_001182727.1:p.Gly137=
NM_001195799.2:c.287G=	NP_001182728.1:p.Gly96=
NM_001195800.2:c.314-2076G=	NP_001182729.1:n.314-2076G=
NM_001195803.2:c.314-1249G=	NP_001182732.1:n.314-1249G=