Canonical Allele Identifier: CA2322779553

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128069C= , CM000681.2:g.11128069C=	GRCh38
NC_000019.9:g.11238745C= , CM000681.1:g.11238745C=	GRCh37
NC_000019.8:g.11099745C=	NCBI36
NG_009060.1:g.43689C= , LRG_274:g.43689C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2631C=	ENSP00000252444.6:p.Ser877=
ENST00000559340.2:c.*442C=	ENSP00000453696.2:n.*442C=
ENST00000560467.2:c.2253C=	ENSP00000453513.2:p.Ser751=
ENST00000558518.6:c.2373C= MANE Select	ENSP00000454071.1:p.Ser791=
ENST00000252444.9:c.2627C=
ENST00000455727.6:c.1869C=	ENSP00000397829.2:p.Ser623=
ENST00000535915.5:c.2250C=	ENSP00000440520.1:p.Ser750=
ENST00000545707.5:c.1839C=	ENSP00000437639.1:p.Ser613=
ENST00000557933.5:c.2373C=	ENSP00000453557.1:p.Ser791=
ENST00000558013.5:c.2373C=	ENSP00000453346.1:p.Ser791=
ENST00000558518.5:c.2373C=	ENSP00000454071.1:p.Ser791=
ENST00000560628.1:n.108+415C=
NM_000527.4:c.2373C= , LRG_274t1:c.2373C=	NP_000518.1:p.Ser791=
NM_001195798.1:c.2373C=	NP_001182727.1:p.Ser791=
NM_001195799.1:c.2250C=	NP_001182728.1:p.Ser750=
NM_001195800.1:c.1869C=	NP_001182729.1:p.Ser623=
NM_001195803.1:c.1839C=	NP_001182732.1:p.Ser613=
XM_011528010.1:c.2312-1444C=	XP_011526312.1:n.2312-1444C=
XM_011528011.1:c.1992C=	XP_011526313.1:p.Ser664=
XR_244074.2:n.2383C=
XM_011528010.2:c.2312-1444C=	XP_011526312.1:n.2312-1444C=
XR_001753685.2:n.2707C=
XR_001753686.2:n.2350C=
NM_000527.5:c.2373C= MANE Select	NP_000518.1:p.Ser791=
NM_001195798.2:c.2373C=	NP_001182727.1:p.Ser791=
NM_001195799.2:c.2250C=	NP_001182728.1:p.Ser750=
NM_001195800.2:c.1869C=	NP_001182729.1:p.Ser623=
NM_001195803.2:c.1839C=	NP_001182732.1:p.Ser613=