Canonical Allele Identifier: CA2004922492

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121563084T= , CM000673.2:g.121563084T=	GRCh38
NC_000011.9:g.121433793T= , CM000673.1:g.121433793T=	GRCh37
NC_000011.8:g.120939003T=	NCBI36
NG_023313.1:g.115833T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3049+3427T= MANE Select	ENSP00000260197.6:n.3049+3427T=
ENST00000260197.11:c.3049+3427T=	ENSP00000260197.6:n.3049+3427T=
NM_003105.5:c.3049+3427T=	NP_003096.1:n.3049+3427T=
XM_011542963.1:c.3049+3427T=	XP_011541265.1:n.3049+3427T=
XM_011542964.1:c.3049+3427T=	XP_011541266.1:n.3049+3427T=
XM_011542965.1:c.1510+3427T=	XP_011541267.1:n.1510+3427T=
XM_011542966.1:c.409+3427T=	XP_011541268.1:n.409+3427T=
XM_011542963.3:c.3049+3427T=	XP_011541265.1:n.3049+3427T=
XM_011542965.3:c.1510+3427T=	XP_011541267.1:n.1510+3427T=
XM_017018169.2:c.2737+3427T=	XP_016873658.1:n.2737+3427T=
XM_017018170.2:c.2524+3427T=	XP_016873659.1:n.2524+3427T=
XM_017018171.1:c.3049+3427T=	XP_016873660.1:n.3049+3427T=
XM_017018172.2:c.409+3427T=	XP_016873661.1:n.409+3427T=
NM_003105.6:c.3049+3427T= MANE Select	NP_003096.2:n.3049+3427T=