Canonical Allele Identifier: CA2322775345

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120104T= , CM000681.2:g.11120104T=	GRCh38
NC_000019.9:g.11230780T= , CM000681.1:g.11230780T=	GRCh37
NC_000019.8:g.11091780T=	NCBI36
NG_009060.1:g.35724T= , LRG_274:g.35724T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2116T=	ENSP00000252444.6:p.Trp706=
ENST00000559340.2:c.1718T=	ENSP00000453696.2:p.Leu573=
ENST00000560467.2:c.1738T=	ENSP00000453513.2:p.Trp580=
ENST00000558518.6:c.1858T= MANE Select	ENSP00000454071.1:p.Trp620=
ENST00000252444.9:c.2112T=
ENST00000455727.6:c.1354T=	ENSP00000397829.2:p.Trp452=
ENST00000535915.5:c.1735T=	ENSP00000440520.1:p.Trp579=
ENST00000545707.5:c.1477T=	ENSP00000437639.1:p.Trp493=
ENST00000557933.5:c.1858T=	ENSP00000453557.1:p.Trp620=
ENST00000558013.5:c.1858T=	ENSP00000453346.1:p.Trp620=
ENST00000558518.5:c.1858T=	ENSP00000454071.1:p.Trp620=
ENST00000559340.1:c.439T=
NM_000527.4:c.1858T= , LRG_274t1:c.1858T=	NP_000518.1:p.Trp620=
NM_001195798.1:c.1858T=	NP_001182727.1:p.Trp620=
NM_001195799.1:c.1735T=	NP_001182728.1:p.Trp579=
NM_001195800.1:c.1354T=	NP_001182729.1:p.Trp452=
NM_001195803.1:c.1477T=	NP_001182732.1:p.Trp493=
XM_011528010.1:c.1858T=	XP_011526312.1:p.Trp620=
XM_011528011.1:c.1477T=	XP_011526313.1:p.Trp493=
XR_244074.2:n.1868T=
XM_011528010.2:c.1858T=	XP_011526312.1:p.Trp620=
XR_001753685.2:n.1975T=
XR_001753686.2:n.1835T=
NM_000527.5:c.1858T= MANE Select	NP_000518.1:p.Trp620=
NM_001195798.2:c.1858T=	NP_001182727.1:p.Trp620=
NM_001195799.2:c.1735T=	NP_001182728.1:p.Trp579=
NM_001195800.2:c.1354T=	NP_001182729.1:p.Trp452=
NM_001195803.2:c.1477T=	NP_001182732.1:p.Trp493=