Canonical Allele Identifier: CA2322779536

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128042G= , CM000681.2:g.11128042G=	GRCh38
NC_000019.9:g.11238718G= , CM000681.1:g.11238718G=	GRCh37
NC_000019.8:g.11099718G=	NCBI36
NG_009060.1:g.43662G= , LRG_274:g.43662G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2604G=	ENSP00000252444.6:p.Lys868=
ENST00000559340.2:c.*415G=	ENSP00000453696.2:n.*415G=
ENST00000560467.2:c.2226G=	ENSP00000453513.2:p.Lys742=
ENST00000558518.6:c.2346G= MANE Select	ENSP00000454071.1:p.Lys782=
ENST00000252444.9:c.2600G=
ENST00000455727.6:c.1842G=	ENSP00000397829.2:p.Lys614=
ENST00000535915.5:c.2223G=	ENSP00000440520.1:p.Lys741=
ENST00000545707.5:c.1812G=	ENSP00000437639.1:p.Lys604=
ENST00000557933.5:c.2346G=	ENSP00000453557.1:p.Lys782=
ENST00000558013.5:c.2346G=	ENSP00000453346.1:p.Lys782=
ENST00000558518.5:c.2346G=	ENSP00000454071.1:p.Lys782=
ENST00000560628.1:n.108+388G=
NM_000527.4:c.2346G= , LRG_274t1:c.2346G=	NP_000518.1:p.Lys782=
NM_001195798.1:c.2346G=	NP_001182727.1:p.Lys782=
NM_001195799.1:c.2223G=	NP_001182728.1:p.Lys741=
NM_001195800.1:c.1842G=	NP_001182729.1:p.Lys614=
NM_001195803.1:c.1812G=	NP_001182732.1:p.Lys604=
XM_011528010.1:c.2312-1471G=	XP_011526312.1:n.2312-1471G=
XM_011528011.1:c.1965G=	XP_011526313.1:p.Lys655=
XR_244074.2:n.2356G=
XM_011528010.2:c.2312-1471G=	XP_011526312.1:n.2312-1471G=
XR_001753685.2:n.2680G=
XR_001753686.2:n.2323G=
NM_000527.5:c.2346G= MANE Select	NP_000518.1:p.Lys782=
NM_001195798.2:c.2346G=	NP_001182727.1:p.Lys782=
NM_001195799.2:c.2223G=	NP_001182728.1:p.Lys741=
NM_001195800.2:c.1842G=	NP_001182729.1:p.Lys614=
NM_001195803.2:c.1812G=	NP_001182732.1:p.Lys604=