Canonical Allele Identifier: CA2322773292

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116171T= , CM000681.2:g.11116171T=	GRCh38
NC_000019.9:g.11226847T= , CM000681.1:g.11226847T=	GRCh37
NC_000019.8:g.11087847T=	NCBI36
NG_009060.1:g.31791T= , LRG_274:g.31791T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1922T=	ENSP00000252444.6:p.Leu641=
ENST00000559340.2:c.1664T=	ENSP00000453696.2:p.Leu555=
ENST00000560467.2:c.1544T=	ENSP00000453513.2:p.Leu515=
ENST00000558518.6:c.1664T= MANE Select	ENSP00000454071.1:p.Leu555=
ENST00000252444.9:c.1918T=
ENST00000455727.6:c.1160T=	ENSP00000397829.2:p.Leu387=
ENST00000535915.5:c.1541T=	ENSP00000440520.1:p.Leu514=
ENST00000545707.5:c.1283T=	ENSP00000437639.1:p.Leu428=
ENST00000557933.5:c.1664T=	ENSP00000453557.1:p.Leu555=
ENST00000558013.5:c.1664T=	ENSP00000453346.1:p.Leu555=
ENST00000558518.5:c.1664T=	ENSP00000454071.1:p.Leu555=
ENST00000559340.1:c.385T=
NM_000527.4:c.1664T= , LRG_274t1:c.1664T=	NP_000518.1:p.Leu555=
NM_001195798.1:c.1664T=	NP_001182727.1:p.Leu555=
NM_001195799.1:c.1541T=	NP_001182728.1:p.Leu514=
NM_001195800.1:c.1160T=	NP_001182729.1:p.Leu387=
NM_001195803.1:c.1283T=	NP_001182732.1:p.Leu428=
XM_011528010.1:c.1664T=	XP_011526312.1:p.Leu555=
XM_011528011.1:c.1283T=	XP_011526313.1:p.Leu428=
XR_244074.2:n.1814T=
XM_011528010.2:c.1664T=	XP_011526312.1:p.Leu555=
XR_001753685.2:n.1781T=
XR_001753686.2:n.1781T=
NM_000527.5:c.1664T= MANE Select	NP_000518.1:p.Leu555=
NM_001195798.2:c.1664T=	NP_001182727.1:p.Leu555=
NM_001195799.2:c.1541T=	NP_001182728.1:p.Leu514=
NM_001195800.2:c.1160T=	NP_001182729.1:p.Leu387=
NM_001195803.2:c.1283T=	NP_001182732.1:p.Leu428=