Canonical Allele Identifier: CA2322775444

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120225A= , CM000681.2:g.11120225A=	GRCh38
NC_000019.9:g.11230901A= , CM000681.1:g.11230901A=	GRCh37
NC_000019.8:g.11091901A=	NCBI36
NG_009060.1:g.35845A= , LRG_274:g.35845A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2237A=	ENSP00000252444.6:p.Gln746=
ENST00000559340.2:c.*48A=	ENSP00000453696.2:n.*48A=
ENST00000560467.2:c.1859A=	ENSP00000453513.2:p.Gln620=
ENST00000558518.6:c.1979A= MANE Select	ENSP00000454071.1:p.Gln660=
ENST00000252444.9:c.2233A=
ENST00000455727.6:c.1475A=	ENSP00000397829.2:p.Gln492=
ENST00000535915.5:c.1856A=	ENSP00000440520.1:p.Gln619=
ENST00000545707.5:c.1598A=	ENSP00000437639.1:p.Gln533=
ENST00000557933.5:c.1979A=	ENSP00000453557.1:p.Gln660=
ENST00000558013.5:c.1979A=	ENSP00000453346.1:p.Gln660=
ENST00000558518.5:c.1979A=	ENSP00000454071.1:p.Gln660=
ENST00000559340.1:c.560A=
NM_000527.4:c.1979A= , LRG_274t1:c.1979A=	NP_000518.1:p.Gln660=
NM_001195798.1:c.1979A=	NP_001182727.1:p.Gln660=
NM_001195799.1:c.1856A=	NP_001182728.1:p.Gln619=
NM_001195800.1:c.1475A=	NP_001182729.1:p.Gln492=
NM_001195803.1:c.1598A=	NP_001182732.1:p.Gln533=
XM_011528010.1:c.1979A=	XP_011526312.1:p.Gln660=
XM_011528011.1:c.1598A=	XP_011526313.1:p.Gln533=
XR_244074.2:n.1989A=
XM_011528010.2:c.1979A=	XP_011526312.1:p.Gln660=
XR_001753685.2:n.2096A=
XR_001753686.2:n.1956A=
NM_000527.5:c.1979A= MANE Select	NP_000518.1:p.Gln660=
NM_001195798.2:c.1979A=	NP_001182727.1:p.Gln660=
NM_001195799.2:c.1856A=	NP_001182728.1:p.Gln619=
NM_001195800.2:c.1475A=	NP_001182729.1:p.Gln492=
NM_001195803.2:c.1598A=	NP_001182732.1:p.Gln533=