Canonical Allele Identifier: CA2322768562

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107392T= , CM000681.2:g.11107392T=	GRCh38
NC_000019.9:g.11218068T= , CM000681.1:g.11218068T=	GRCh37
NC_000019.8:g.11079068T=	NCBI36
NG_009060.1:g.23012T= , LRG_274:g.23012T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1076T=	ENSP00000252444.6:p.Val359=
ENST00000559340.2:c.818T=	ENSP00000453696.2:p.Val273=
ENST00000560467.2:c.818T=	ENSP00000453513.2:p.Val273=
ENST00000558518.6:c.818T= MANE Select	ENSP00000454071.1:p.Val273=
ENST00000252444.9:c.1072T=
ENST00000455727.6:c.314T=	ENSP00000397829.2:p.Leu105=
ENST00000535915.5:c.695T=	ENSP00000440520.1:p.Val232=
ENST00000545707.5:c.437T=	ENSP00000437639.1:p.Val146=
ENST00000557933.5:c.818T=	ENSP00000453557.1:p.Val273=
ENST00000558013.5:c.818T=	ENSP00000453346.1:p.Val273=
ENST00000558518.5:c.818T=	ENSP00000454071.1:p.Val273=
ENST00000558528.1:n.333T=
ENST00000560467.1:c.418T=
NM_000527.4:c.818T= , LRG_274t1:c.818T=	NP_000518.1:p.Val273=
NM_001195798.1:c.818T=	NP_001182727.1:p.Val273=
NM_001195799.1:c.695T=	NP_001182728.1:p.Val232=
NM_001195800.1:c.314T=	NP_001182729.1:p.Leu105=
NM_001195803.1:c.437T=	NP_001182732.1:p.Val146=
XM_011528010.1:c.818T=	XP_011526312.1:p.Val273=
XM_011528011.1:c.437T=	XP_011526313.1:p.Val146=
XR_244074.2:n.968T=
XM_011528010.2:c.818T=	XP_011526312.1:p.Val273=
XR_001753685.2:n.935T=
XR_001753686.2:n.935T=
NM_000527.5:c.818T= MANE Select	NP_000518.1:p.Val273=
NM_001195798.2:c.818T=	NP_001182727.1:p.Val273=
NM_001195799.2:c.695T=	NP_001182728.1:p.Val232=
NM_001195800.2:c.314T=	NP_001182729.1:p.Leu105=
NM_001195803.2:c.437T=	NP_001182732.1:p.Val146=