Canonical Allele Identifier: CA2322771753

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113368T= , CM000681.2:g.11113368T=	GRCh38
NC_000019.9:g.11224044T= , CM000681.1:g.11224044T=	GRCh37
NC_000019.8:g.11085044T=	NCBI36
NG_009060.1:g.28988T= , LRG_274:g.28988T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1535T=	ENSP00000252444.6:p.Leu512=
ENST00000559340.2:c.1277T=	ENSP00000453696.2:p.Leu426=
ENST00000560467.2:c.1157T=	ENSP00000453513.2:p.Leu386=
ENST00000558518.6:c.1277T= MANE Select	ENSP00000454071.1:p.Leu426=
ENST00000252444.9:c.1531T=
ENST00000455727.6:c.773T=	ENSP00000397829.2:p.Leu258=
ENST00000535915.5:c.1154T=	ENSP00000440520.1:p.Leu385=
ENST00000545707.5:c.896T=	ENSP00000437639.1:p.Leu299=
ENST00000557933.5:c.1277T=	ENSP00000453557.1:p.Leu426=
ENST00000558013.5:c.1277T=	ENSP00000453346.1:p.Leu426=
ENST00000558518.5:c.1277T=	ENSP00000454071.1:p.Leu426=
ENST00000560173.1:n.276T=
ENST00000560467.1:c.757T=
NM_000527.4:c.1277T= , LRG_274t1:c.1277T=	NP_000518.1:p.Leu426=
NM_001195798.1:c.1277T=	NP_001182727.1:p.Leu426=
NM_001195799.1:c.1154T=	NP_001182728.1:p.Leu385=
NM_001195800.1:c.773T=	NP_001182729.1:p.Leu258=
NM_001195803.1:c.896T=	NP_001182732.1:p.Leu299=
XM_011528010.1:c.1277T=	XP_011526312.1:p.Leu426=
XM_011528011.1:c.896T=	XP_011526313.1:p.Leu299=
XR_244074.2:n.1427T=
XM_011528010.2:c.1277T=	XP_011526312.1:p.Leu426=
XR_001753685.2:n.1394T=
XR_001753686.2:n.1394T=
NM_000527.5:c.1277T= MANE Select	NP_000518.1:p.Leu426=
NM_001195798.2:c.1277T=	NP_001182727.1:p.Leu426=
NM_001195799.2:c.1154T=	NP_001182728.1:p.Leu385=
NM_001195800.2:c.773T=	NP_001182729.1:p.Leu258=
NM_001195803.2:c.896T=	NP_001182732.1:p.Leu299=