Canonical Allele Identifier: CA2322779535

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128040A= , CM000681.2:g.11128040A=	GRCh38
NC_000019.9:g.11238716A= , CM000681.1:g.11238716A=	GRCh37
NC_000019.8:g.11099716A=	NCBI36
NG_009060.1:g.43660A= , LRG_274:g.43660A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2602A=	ENSP00000252444.6:p.Lys868=
ENST00000559340.2:c.*413A=	ENSP00000453696.2:n.*413A=
ENST00000560467.2:c.2224A=	ENSP00000453513.2:p.Lys742=
ENST00000558518.6:c.2344A= MANE Select	ENSP00000454071.1:p.Lys782=
ENST00000252444.9:c.2598A=
ENST00000455727.6:c.1840A=	ENSP00000397829.2:p.Lys614=
ENST00000535915.5:c.2221A=	ENSP00000440520.1:p.Lys741=
ENST00000545707.5:c.1810A=	ENSP00000437639.1:p.Lys604=
ENST00000557933.5:c.2344A=	ENSP00000453557.1:p.Lys782=
ENST00000558013.5:c.2344A=	ENSP00000453346.1:p.Lys782=
ENST00000558518.5:c.2344A=	ENSP00000454071.1:p.Lys782=
ENST00000560628.1:n.108+386A=
NM_000527.4:c.2344A= , LRG_274t1:c.2344A=	NP_000518.1:p.Lys782=
NM_001195798.1:c.2344A=	NP_001182727.1:p.Lys782=
NM_001195799.1:c.2221A=	NP_001182728.1:p.Lys741=
NM_001195800.1:c.1840A=	NP_001182729.1:p.Lys614=
NM_001195803.1:c.1810A=	NP_001182732.1:p.Lys604=
XM_011528010.1:c.2312-1473A=	XP_011526312.1:n.2312-1473A=
XM_011528011.1:c.1963A=	XP_011526313.1:p.Lys655=
XR_244074.2:n.2354A=
XM_011528010.2:c.2312-1473A=	XP_011526312.1:n.2312-1473A=
XR_001753685.2:n.2678A=
XR_001753686.2:n.2321A=
NM_000527.5:c.2344A= MANE Select	NP_000518.1:p.Lys782=
NM_001195798.2:c.2344A=	NP_001182727.1:p.Lys782=
NM_001195799.2:c.2221A=	NP_001182728.1:p.Lys741=
NM_001195800.2:c.1840A=	NP_001182729.1:p.Lys614=
NM_001195803.2:c.1810A=	NP_001182732.1:p.Lys604=