Canonical Allele Identifier: CA2004917287

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553988A= , CM000673.2:g.121553988A=	GRCh38
NC_000011.9:g.121424697A= , CM000673.1:g.121424697A=	GRCh37
NC_000011.8:g.120929907A=	NCBI36
NG_023313.1:g.106737A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2318A= MANE Select	ENSP00000260197.6:p.Asp773=
ENST00000260197.11:c.2318A=	ENSP00000260197.6:p.Asp773=
NM_003105.5:c.2318A=	NP_003096.1:p.Asp773=
XM_011542963.1:c.2318A=	XP_011541265.1:p.Asp773=
XM_011542964.1:c.2318A=	XP_011541266.1:p.Asp773=
XM_011542965.1:c.779A=	XP_011541267.1:p.Asp260=
XM_011542963.3:c.2318A=	XP_011541265.1:p.Asp773=
XM_011542965.3:c.779A=	XP_011541267.1:p.Asp260=
XM_017018169.2:c.2006A=	XP_016873658.1:p.Asp669=
XM_017018170.2:c.1793A=	XP_016873659.1:p.Asp598=
XM_017018171.1:c.2318A=	XP_016873660.1:p.Asp773=
XM_017018172.2:c.-231A=	XP_016873661.1:n.-231A=
NM_003105.6:c.2318A= MANE Select	NP_003096.2:p.Asp773=