Canonical Allele Identifier: CA2322771806

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113437G= , CM000681.2:g.11113437G=	GRCh38
NC_000019.9:g.11224113G= , CM000681.1:g.11224113G=	GRCh37
NC_000019.8:g.11085113G=	NCBI36
NG_009060.1:g.29057G= , LRG_274:g.29057G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1604G=	ENSP00000252444.6:p.Arg535=
ENST00000559340.2:c.1346G=	ENSP00000453696.2:p.Arg449=
ENST00000560467.2:c.1226G=	ENSP00000453513.2:p.Arg409=
ENST00000558518.6:c.1346G= MANE Select	ENSP00000454071.1:p.Arg449=
ENST00000252444.9:c.1600G=
ENST00000455727.6:c.842G=	ENSP00000397829.2:p.Arg281=
ENST00000535915.5:c.1223G=	ENSP00000440520.1:p.Arg408=
ENST00000545707.5:c.965G=	ENSP00000437639.1:p.Arg322=
ENST00000557933.5:c.1346G=	ENSP00000453557.1:p.Arg449=
ENST00000558013.5:c.1346G=	ENSP00000453346.1:p.Arg449=
ENST00000558518.5:c.1346G=	ENSP00000454071.1:p.Arg449=
ENST00000559340.1:c.67G=
ENST00000560173.1:n.345G=
ENST00000560467.1:c.826G=
NM_000527.4:c.1346G= , LRG_274t1:c.1346G=	NP_000518.1:p.Arg449=
NM_001195798.1:c.1346G=	NP_001182727.1:p.Arg449=
NM_001195799.1:c.1223G=	NP_001182728.1:p.Arg408=
NM_001195800.1:c.842G=	NP_001182729.1:p.Arg281=
NM_001195803.1:c.965G=	NP_001182732.1:p.Arg322=
XM_011528010.1:c.1346G=	XP_011526312.1:p.Arg449=
XM_011528011.1:c.965G=	XP_011526313.1:p.Arg322=
XR_244074.2:n.1496G=
XM_011528010.2:c.1346G=	XP_011526312.1:p.Arg449=
XR_001753685.2:n.1463G=
XR_001753686.2:n.1463G=
NM_000527.5:c.1346G= MANE Select	NP_000518.1:p.Arg449=
NM_001195798.2:c.1346G=	NP_001182727.1:p.Arg449=
NM_001195799.2:c.1223G=	NP_001182728.1:p.Arg408=
NM_001195800.2:c.842G=	NP_001182729.1:p.Arg281=
NM_001195803.2:c.965G=	NP_001182732.1:p.Arg322=