Canonical Allele Identifier: CA2322777175

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123198A= , CM000681.2:g.11123198A=	GRCh38
NC_000019.9:g.11233874A= , CM000681.1:g.11233874A=	GRCh37
NC_000019.8:g.11094874A=	NCBI36
NG_009060.1:g.38818A= , LRG_274:g.38818A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2423A=	ENSP00000252444.6:p.Gln808=
ENST00000559340.2:c.*234A=	ENSP00000453696.2:n.*234A=
ENST00000560467.2:c.2045A=	ENSP00000453513.2:p.Gln682=
ENST00000558518.6:c.2165A= MANE Select	ENSP00000454071.1:p.Gln722=
ENST00000252444.9:c.2419A=
ENST00000455727.6:c.1661A=	ENSP00000397829.2:p.Gln554=
ENST00000535915.5:c.2042A=	ENSP00000440520.1:p.Gln681=
ENST00000545707.5:c.1631A=	ENSP00000437639.1:p.Gln544=
ENST00000557933.5:c.2165A=	ENSP00000453557.1:p.Gln722=
ENST00000558013.5:c.2165A=	ENSP00000453346.1:p.Gln722=
ENST00000558518.5:c.2165A=	ENSP00000454071.1:p.Gln722=
NM_000527.4:c.2165A= , LRG_274t1:c.2165A=	NP_000518.1:p.Gln722=
NM_001195798.1:c.2165A=	NP_001182727.1:p.Gln722=
NM_001195799.1:c.2042A=	NP_001182728.1:p.Gln681=
NM_001195800.1:c.1661A=	NP_001182729.1:p.Gln554=
NM_001195803.1:c.1631A=	NP_001182732.1:p.Gln544=
XM_011528010.1:c.2165A=	XP_011526312.1:p.Gln722=
XM_011528011.1:c.1784A=	XP_011526313.1:p.Gln595=
XR_244074.2:n.2175A=
XM_011528010.2:c.2165A=	XP_011526312.1:p.Gln722=
XR_001753685.2:n.2499A=
XR_001753686.2:n.2142A=
NM_000527.5:c.2165A= MANE Select	NP_000518.1:p.Gln722=
NM_001195798.2:c.2165A=	NP_001182727.1:p.Gln722=
NM_001195799.2:c.2042A=	NP_001182728.1:p.Gln681=
NM_001195800.2:c.1661A=	NP_001182729.1:p.Gln554=
NM_001195803.2:c.1631A=	NP_001182732.1:p.Gln544=