Canonical Allele Identifier: CA2322772062

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113762G= , CM000681.2:g.11113762G=	GRCh38
NC_000019.9:g.11224438G= , CM000681.1:g.11224438G=	GRCh37
NC_000019.8:g.11085438G=	NCBI36
NG_009060.1:g.29382G= , LRG_274:g.29382G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844G=	ENSP00000252444.6:p.Gly615=
ENST00000559340.2:c.1586G=	ENSP00000453696.2:p.Gly529=
ENST00000560467.2:c.1466G=	ENSP00000453513.2:p.Gly489=
ENST00000558518.6:c.1586G= MANE Select	ENSP00000454071.1:p.Gly529=
ENST00000252444.9:c.1840G=
ENST00000455727.6:c.1082G=	ENSP00000397829.2:p.Gly361=
ENST00000535915.5:c.1463G=	ENSP00000440520.1:p.Gly488=
ENST00000545707.5:c.1205G=	ENSP00000437639.1:p.Gly402=
ENST00000557933.5:c.1586G=	ENSP00000453557.1:p.Gly529=
ENST00000558013.5:c.1586G=	ENSP00000453346.1:p.Gly529=
ENST00000558518.5:c.1586G=	ENSP00000454071.1:p.Gly529=
ENST00000559340.1:c.307G=
NM_000527.4:c.1586G= , LRG_274t1:c.1586G=	NP_000518.1:p.Gly529=
NM_001195798.1:c.1586G=	NP_001182727.1:p.Gly529=
NM_001195799.1:c.1463G=	NP_001182728.1:p.Gly488=
NM_001195800.1:c.1082G=	NP_001182729.1:p.Gly361=
NM_001195803.1:c.1205G=	NP_001182732.1:p.Gly402=
XM_011528010.1:c.1586G=	XP_011526312.1:p.Gly529=
XM_011528011.1:c.1205G=	XP_011526313.1:p.Gly402=
XR_244074.2:n.1736G=
XM_011528010.2:c.1586G=	XP_011526312.1:p.Gly529=
XR_001753685.2:n.1703G=
XR_001753686.2:n.1703G=
NM_000527.5:c.1586G= MANE Select	NP_000518.1:p.Gly529=
NM_001195798.2:c.1586G=	NP_001182727.1:p.Gly529=
NM_001195799.2:c.1463G=	NP_001182728.1:p.Gly488=
NM_001195800.2:c.1082G=	NP_001182729.1:p.Gly361=
NM_001195803.2:c.1205G=	NP_001182732.1:p.Gly402=