Canonical Allele Identifier: CA2322773746

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116980C= , CM000681.2:g.11116980C=	GRCh38
NC_000019.9:g.11227656C= , CM000681.1:g.11227656C=	GRCh37
NC_000019.8:g.11088656C=	NCBI36
NG_009060.1:g.32600C= , LRG_274:g.32600C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2085C=	ENSP00000252444.6:p.Phe695=
ENST00000559340.2:c.1705+768C=	ENSP00000453696.2:n.1705+768C=
ENST00000560467.2:c.1707C=	ENSP00000453513.2:p.Phe569=
ENST00000558518.6:c.1827C= MANE Select	ENSP00000454071.1:p.Phe609=
ENST00000252444.9:c.2081C=
ENST00000455727.6:c.1323C=	ENSP00000397829.2:p.Phe441=
ENST00000535915.5:c.1704C=	ENSP00000440520.1:p.Phe568=
ENST00000545707.5:c.1446C=	ENSP00000437639.1:p.Phe482=
ENST00000557933.5:c.1827C=	ENSP00000453557.1:p.Phe609=
ENST00000558013.5:c.1827C=	ENSP00000453346.1:p.Phe609=
ENST00000558518.5:c.1827C=	ENSP00000454071.1:p.Phe609=
ENST00000559340.1:c.426+768C=
NM_000527.4:c.1827C= , LRG_274t1:c.1827C=	NP_000518.1:p.Phe609=
NM_001195798.1:c.1827C=	NP_001182727.1:p.Phe609=
NM_001195799.1:c.1704C=	NP_001182728.1:p.Phe568=
NM_001195800.1:c.1323C=	NP_001182729.1:p.Phe441=
NM_001195803.1:c.1446C=	NP_001182732.1:p.Phe482=
XM_011528010.1:c.1827C=	XP_011526312.1:p.Phe609=
XM_011528011.1:c.1446C=	XP_011526313.1:p.Phe482=
XR_244074.2:n.1855+768C=
XM_011528010.2:c.1827C=	XP_011526312.1:p.Phe609=
XR_001753685.2:n.1944C=
XR_001753686.2:n.1822+768C=
NM_000527.5:c.1827C= MANE Select	NP_000518.1:p.Phe609=
NM_001195798.2:c.1827C=	NP_001182727.1:p.Phe609=
NM_001195799.2:c.1704C=	NP_001182728.1:p.Phe568=
NM_001195800.2:c.1323C=	NP_001182729.1:p.Phe441=
NM_001195803.2:c.1446C=	NP_001182732.1:p.Phe482=