Canonical Allele Identifier: CA2004892521

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496918G= , CM000673.2:g.121496918G=	GRCh38
NC_000011.9:g.121367627G= , CM000673.1:g.121367627G=	GRCh37
NC_000011.8:g.120872837G=	NCBI36
NG_023313.1:g.49667G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.808G= MANE Select	ENSP00000260197.6:p.Glu270=
ENST00000260197.11:c.808G=	ENSP00000260197.6:p.Glu270=
ENST00000532451.1:n.760G=
NM_003105.5:c.808G=	NP_003096.1:p.Glu270=
XM_011542963.1:c.808G=	XP_011541265.1:p.Glu270=
XM_011542964.1:c.808G=	XP_011541266.1:p.Glu270=
XM_011542963.3:c.808G=	XP_011541265.1:p.Glu270=
XM_017018169.2:c.496G=	XP_016873658.1:p.Glu166=
XM_017018170.2:c.283G=	XP_016873659.1:p.Glu95=
XM_017018171.1:c.808G=	XP_016873660.1:p.Glu270=
NM_003105.6:c.808G= MANE Select	NP_003096.2:p.Glu270=