Canonical Allele Identifier: CA2004919361

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558770T= , CM000673.2:g.121558770T=	GRCh38
NC_000011.9:g.121429479T= , CM000673.1:g.121429479T=	GRCh37
NC_000011.8:g.120934689T=	NCBI36
NG_023313.1:g.111519T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2843T= MANE Select	ENSP00000260197.6:p.Phe948=
ENST00000260197.11:c.2843T=	ENSP00000260197.6:p.Phe948=
ENST00000524873.1:n.571T=
ENST00000529445.1:n.549T=
NM_003105.5:c.2843T=	NP_003096.1:p.Phe948=
XM_011542963.1:c.2843T=	XP_011541265.1:p.Phe948=
XM_011542964.1:c.2843T=	XP_011541266.1:p.Phe948=
XM_011542965.1:c.1304T=	XP_011541267.1:p.Phe435=
XM_011542966.1:c.203T=	XP_011541268.1:p.Phe68=
XM_011542963.3:c.2843T=	XP_011541265.1:p.Phe948=
XM_011542965.3:c.1304T=	XP_011541267.1:p.Phe435=
XM_017018169.2:c.2531T=	XP_016873658.1:p.Phe844=
XM_017018170.2:c.2318T=	XP_016873659.1:p.Phe773=
XM_017018171.1:c.2843T=	XP_016873660.1:p.Phe948=
XM_017018172.2:c.203T=	XP_016873661.1:p.Phe68=
NM_003105.6:c.2843T= MANE Select	NP_003096.2:p.Phe948=