Canonical Allele Identifier: CA2004892804

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121497212C= , CM000673.2:g.121497212C=	GRCh38
NC_000011.9:g.121367921C= , CM000673.1:g.121367921C=	GRCh37
NC_000011.8:g.120873131C=	NCBI36
NG_023313.1:g.49961C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.939+163C= MANE Select	ENSP00000260197.6:n.939+163C=
ENST00000260197.11:c.939+163C=	ENSP00000260197.6:n.939+163C=
ENST00000532451.1:n.891+163C=
NM_003105.5:c.939+163C=	NP_003096.1:n.939+163C=
XM_011542963.1:c.939+163C=	XP_011541265.1:n.939+163C=
XM_011542964.1:c.939+163C=	XP_011541266.1:n.939+163C=
XM_011542963.3:c.939+163C=	XP_011541265.1:n.939+163C=
XM_011542965.3:c.-684+163C=	XP_011541267.1:n.-684+163C=
XM_017018169.2:c.627+163C=	XP_016873658.1:n.627+163C=
XM_017018170.2:c.414+163C=	XP_016873659.1:n.414+163C=
XM_017018171.1:c.939+163C=	XP_016873660.1:n.939+163C=
NM_003105.6:c.939+163C= MANE Select	NP_003096.2:n.939+163C=