Canonical Allele Identifier: CA2322775377

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120141A= , CM000681.2:g.11120141A=	GRCh38
NC_000019.9:g.11230817A= , CM000681.1:g.11230817A=	GRCh37
NC_000019.8:g.11091817A=	NCBI36
NG_009060.1:g.35761A= , LRG_274:g.35761A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2153A=	ENSP00000252444.6:p.Asn718=
ENST00000559340.2:c.1755A=	ENSP00000453696.2:p.Gln585=
ENST00000560467.2:c.1775A=	ENSP00000453513.2:p.Asn592=
ENST00000558518.6:c.1895A= MANE Select	ENSP00000454071.1:p.Asn632=
ENST00000252444.9:c.2149A=
ENST00000455727.6:c.1391A=	ENSP00000397829.2:p.Asn464=
ENST00000535915.5:c.1772A=	ENSP00000440520.1:p.Asn591=
ENST00000545707.5:c.1514A=	ENSP00000437639.1:p.Asn505=
ENST00000557933.5:c.1895A=	ENSP00000453557.1:p.Asn632=
ENST00000558013.5:c.1895A=	ENSP00000453346.1:p.Asn632=
ENST00000558518.5:c.1895A=	ENSP00000454071.1:p.Asn632=
ENST00000559340.1:c.476A=
NM_000527.4:c.1895A= , LRG_274t1:c.1895A=	NP_000518.1:p.Asn632=
NM_001195798.1:c.1895A=	NP_001182727.1:p.Asn632=
NM_001195799.1:c.1772A=	NP_001182728.1:p.Asn591=
NM_001195800.1:c.1391A=	NP_001182729.1:p.Asn464=
NM_001195803.1:c.1514A=	NP_001182732.1:p.Asn505=
XM_011528010.1:c.1895A=	XP_011526312.1:p.Asn632=
XM_011528011.1:c.1514A=	XP_011526313.1:p.Asn505=
XR_244074.2:n.1905A=
XM_011528010.2:c.1895A=	XP_011526312.1:p.Asn632=
XR_001753685.2:n.2012A=
XR_001753686.2:n.1872A=
NM_000527.5:c.1895A= MANE Select	NP_000518.1:p.Asn632=
NM_001195798.2:c.1895A=	NP_001182727.1:p.Asn632=
NM_001195799.2:c.1772A=	NP_001182728.1:p.Asn591=
NM_001195800.2:c.1391A=	NP_001182729.1:p.Asn464=
NM_001195803.2:c.1514A=	NP_001182732.1:p.Asn505=