Canonical Allele Identifier: CA2322771733

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113346T= , CM000681.2:g.11113346T=	GRCh38
NC_000019.9:g.11224022T= , CM000681.1:g.11224022T=	GRCh37
NC_000019.8:g.11085022T=	NCBI36
NG_009060.1:g.28966T= , LRG_274:g.28966T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1513T=	ENSP00000252444.6:p.Tyr505=
ENST00000559340.2:c.1255T=	ENSP00000453696.2:p.Tyr419=
ENST00000560467.2:c.1135T=	ENSP00000453513.2:p.Tyr379=
ENST00000558518.6:c.1255T= MANE Select	ENSP00000454071.1:p.Tyr419=
ENST00000252444.9:c.1509T=
ENST00000455727.6:c.751T=	ENSP00000397829.2:p.Tyr251=
ENST00000535915.5:c.1132T=	ENSP00000440520.1:p.Tyr378=
ENST00000545707.5:c.874T=	ENSP00000437639.1:p.Tyr292=
ENST00000557933.5:c.1255T=	ENSP00000453557.1:p.Tyr419=
ENST00000558013.5:c.1255T=	ENSP00000453346.1:p.Tyr419=
ENST00000558518.5:c.1255T=	ENSP00000454071.1:p.Tyr419=
ENST00000560173.1:n.254T=
ENST00000560467.1:c.735T=
NM_000527.4:c.1255T= , LRG_274t1:c.1255T=	NP_000518.1:p.Tyr419=
NM_001195798.1:c.1255T=	NP_001182727.1:p.Tyr419=
NM_001195799.1:c.1132T=	NP_001182728.1:p.Tyr378=
NM_001195800.1:c.751T=	NP_001182729.1:p.Tyr251=
NM_001195803.1:c.874T=	NP_001182732.1:p.Tyr292=
XM_011528010.1:c.1255T=	XP_011526312.1:p.Tyr419=
XM_011528011.1:c.874T=	XP_011526313.1:p.Tyr292=
XR_244074.2:n.1405T=
XM_011528010.2:c.1255T=	XP_011526312.1:p.Tyr419=
XR_001753685.2:n.1372T=
XR_001753686.2:n.1372T=
NM_000527.5:c.1255T= MANE Select	NP_000518.1:p.Tyr419=
NM_001195798.2:c.1255T=	NP_001182727.1:p.Tyr419=
NM_001195799.2:c.1132T=	NP_001182728.1:p.Tyr378=
NM_001195800.2:c.751T=	NP_001182729.1:p.Tyr251=
NM_001195803.2:c.874T=	NP_001182732.1:p.Tyr292=