Canonical Allele Identifier: CA2322771922

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113594T= , CM000681.2:g.11113594T=	GRCh38
NC_000019.9:g.11224270T= , CM000681.1:g.11224270T=	GRCh37
NC_000019.8:g.11085270T=	NCBI36
NG_009060.1:g.29214T= , LRG_274:g.29214T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1676T=	ENSP00000252444.6:p.Ile559=
ENST00000559340.2:c.1418T=	ENSP00000453696.2:p.Ile473=
ENST00000560467.2:c.1298T=	ENSP00000453513.2:p.Ile433=
ENST00000558518.6:c.1418T= MANE Select	ENSP00000454071.1:p.Ile473=
ENST00000252444.9:c.1672T=
ENST00000455727.6:c.914T=	ENSP00000397829.2:p.Ile305=
ENST00000535915.5:c.1295T=	ENSP00000440520.1:p.Ile432=
ENST00000545707.5:c.1037T=	ENSP00000437639.1:p.Ile346=
ENST00000557933.5:c.1418T=	ENSP00000453557.1:p.Ile473=
ENST00000558013.5:c.1418T=	ENSP00000453346.1:p.Ile473=
ENST00000558518.5:c.1418T=	ENSP00000454071.1:p.Ile473=
ENST00000559340.1:c.139T=
ENST00000560467.1:c.898T=
NM_000527.4:c.1418T= , LRG_274t1:c.1418T=	NP_000518.1:p.Ile473=
NM_001195798.1:c.1418T=	NP_001182727.1:p.Ile473=
NM_001195799.1:c.1295T=	NP_001182728.1:p.Ile432=
NM_001195800.1:c.914T=	NP_001182729.1:p.Ile305=
NM_001195803.1:c.1037T=	NP_001182732.1:p.Ile346=
XM_011528010.1:c.1418T=	XP_011526312.1:p.Ile473=
XM_011528011.1:c.1037T=	XP_011526313.1:p.Ile346=
XR_244074.2:n.1568T=
XM_011528010.2:c.1418T=	XP_011526312.1:p.Ile473=
XR_001753685.2:n.1535T=
XR_001753686.2:n.1535T=
NM_000527.5:c.1418T= MANE Select	NP_000518.1:p.Ile473=
NM_001195798.2:c.1418T=	NP_001182727.1:p.Ile473=
NM_001195799.2:c.1295T=	NP_001182728.1:p.Ile432=
NM_001195800.2:c.914T=	NP_001182729.1:p.Ile305=
NM_001195803.2:c.1037T=	NP_001182732.1:p.Ile346=