Canonical Allele Identifier: CA2322768602

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107448C= , CM000681.2:g.11107448C=	GRCh38
NC_000019.9:g.11218124C= , CM000681.1:g.11218124C=	GRCh37
NC_000019.8:g.11079124C=	NCBI36
NG_009060.1:g.23068C= , LRG_274:g.23068C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1132C=	ENSP00000252444.6:p.Leu378=
ENST00000559340.2:c.874C=	ENSP00000453696.2:p.Leu292=
ENST00000560467.2:c.874C=	ENSP00000453513.2:p.Leu292=
ENST00000558518.6:c.874C= MANE Select	ENSP00000454071.1:p.Leu292=
ENST00000252444.9:c.1128C=
ENST00000455727.6:c.370C=	ENSP00000397829.2:p.Leu124=
ENST00000535915.5:c.751C=	ENSP00000440520.1:p.Leu251=
ENST00000545707.5:c.493C=	ENSP00000437639.1:p.Leu165=
ENST00000557933.5:c.874C=	ENSP00000453557.1:p.Leu292=
ENST00000558013.5:c.874C=	ENSP00000453346.1:p.Leu292=
ENST00000558518.5:c.874C=	ENSP00000454071.1:p.Leu292=
ENST00000558528.1:n.389C=
ENST00000560467.1:c.474C=
NM_000527.4:c.874C= , LRG_274t1:c.874C=	NP_000518.1:p.Leu292=
NM_001195798.1:c.874C=	NP_001182727.1:p.Leu292=
NM_001195799.1:c.751C=	NP_001182728.1:p.Leu251=
NM_001195800.1:c.370C=	NP_001182729.1:p.Leu124=
NM_001195803.1:c.493C=	NP_001182732.1:p.Leu165=
XM_011528010.1:c.874C=	XP_011526312.1:p.Leu292=
XM_011528011.1:c.493C=	XP_011526313.1:p.Leu165=
XR_244074.2:n.1024C=
XM_011528010.2:c.874C=	XP_011526312.1:p.Leu292=
XR_001753685.2:n.991C=
XR_001753686.2:n.991C=
NM_000527.5:c.874C= MANE Select	NP_000518.1:p.Leu292=
NM_001195798.2:c.874C=	NP_001182727.1:p.Leu292=
NM_001195799.2:c.751C=	NP_001182728.1:p.Leu251=
NM_001195800.2:c.370C=	NP_001182729.1:p.Leu124=
NM_001195803.2:c.493C=	NP_001182732.1:p.Leu165=