Canonical Allele Identifier: CA2322775346

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120105G= , CM000681.2:g.11120105G=	GRCh38
NC_000019.9:g.11230781G= , CM000681.1:g.11230781G=	GRCh37
NC_000019.8:g.11091781G=	NCBI36
NG_009060.1:g.35725G= , LRG_274:g.35725G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2117G=	ENSP00000252444.6:p.Trp706=
ENST00000559340.2:c.1719G=	ENSP00000453696.2:p.Leu573=
ENST00000560467.2:c.1739G=	ENSP00000453513.2:p.Trp580=
ENST00000558518.6:c.1859G= MANE Select	ENSP00000454071.1:p.Trp620=
ENST00000252444.9:c.2113G=
ENST00000455727.6:c.1355G=	ENSP00000397829.2:p.Trp452=
ENST00000535915.5:c.1736G=	ENSP00000440520.1:p.Trp579=
ENST00000545707.5:c.1478G=	ENSP00000437639.1:p.Trp493=
ENST00000557933.5:c.1859G=	ENSP00000453557.1:p.Trp620=
ENST00000558013.5:c.1859G=	ENSP00000453346.1:p.Trp620=
ENST00000558518.5:c.1859G=	ENSP00000454071.1:p.Trp620=
ENST00000559340.1:c.440G=
NM_000527.4:c.1859G= , LRG_274t1:c.1859G=	NP_000518.1:p.Trp620=
NM_001195798.1:c.1859G=	NP_001182727.1:p.Trp620=
NM_001195799.1:c.1736G=	NP_001182728.1:p.Trp579=
NM_001195800.1:c.1355G=	NP_001182729.1:p.Trp452=
NM_001195803.1:c.1478G=	NP_001182732.1:p.Trp493=
XM_011528010.1:c.1859G=	XP_011526312.1:p.Trp620=
XM_011528011.1:c.1478G=	XP_011526313.1:p.Trp493=
XR_244074.2:n.1869G=
XM_011528010.2:c.1859G=	XP_011526312.1:p.Trp620=
XR_001753685.2:n.1976G=
XR_001753686.2:n.1836G=
NM_000527.5:c.1859G= MANE Select	NP_000518.1:p.Trp620=
NM_001195798.2:c.1859G=	NP_001182727.1:p.Trp620=
NM_001195799.2:c.1736G=	NP_001182728.1:p.Trp579=
NM_001195800.2:c.1355G=	NP_001182729.1:p.Trp452=
NM_001195803.2:c.1478G=	NP_001182732.1:p.Trp493=