Canonical Allele Identifier: CA2322775342

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120100A= , CM000681.2:g.11120100A=	GRCh38
NC_000019.9:g.11230776A= , CM000681.1:g.11230776A=	GRCh37
NC_000019.8:g.11091776A=	NCBI36
NG_009060.1:g.35720A= , LRG_274:g.35720A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2112A=	ENSP00000252444.6:p.Val704=
ENST00000559340.2:c.1714A=	ENSP00000453696.2:p.Ile572=
ENST00000560467.2:c.1734A=	ENSP00000453513.2:p.Val578=
ENST00000558518.6:c.1854A= MANE Select	ENSP00000454071.1:p.Val618=
ENST00000252444.9:c.2108A=
ENST00000455727.6:c.1350A=	ENSP00000397829.2:p.Val450=
ENST00000535915.5:c.1731A=	ENSP00000440520.1:p.Val577=
ENST00000545707.5:c.1473A=	ENSP00000437639.1:p.Val491=
ENST00000557933.5:c.1854A=	ENSP00000453557.1:p.Val618=
ENST00000558013.5:c.1854A=	ENSP00000453346.1:p.Val618=
ENST00000558518.5:c.1854A=	ENSP00000454071.1:p.Val618=
ENST00000559340.1:c.435A=
NM_000527.4:c.1854A= , LRG_274t1:c.1854A=	NP_000518.1:p.Val618=
NM_001195798.1:c.1854A=	NP_001182727.1:p.Val618=
NM_001195799.1:c.1731A=	NP_001182728.1:p.Val577=
NM_001195800.1:c.1350A=	NP_001182729.1:p.Val450=
NM_001195803.1:c.1473A=	NP_001182732.1:p.Val491=
XM_011528010.1:c.1854A=	XP_011526312.1:p.Val618=
XM_011528011.1:c.1473A=	XP_011526313.1:p.Val491=
XR_244074.2:n.1864A=
XM_011528010.2:c.1854A=	XP_011526312.1:p.Val618=
XR_001753685.2:n.1971A=
XR_001753686.2:n.1831A=
NM_000527.5:c.1854A= MANE Select	NP_000518.1:p.Val618=
NM_001195798.2:c.1854A=	NP_001182727.1:p.Val618=
NM_001195799.2:c.1731A=	NP_001182728.1:p.Val577=
NM_001195800.2:c.1350A=	NP_001182729.1:p.Val450=
NM_001195803.2:c.1473A=	NP_001182732.1:p.Val491=