Canonical Allele Identifier: CA2004865694

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121458169T= , CM000673.2:g.121458169T=	GRCh38
NC_000011.9:g.121328878T= , CM000673.1:g.121328878T=	GRCh37
NC_000011.8:g.120834088T=	NCBI36
NG_023313.1:g.10918T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.285+5553T= MANE Select	ENSP00000260197.6:n.285+5553T=
ENST00000260197.11:c.285+5553T=	ENSP00000260197.6:n.285+5553T=
ENST00000532451.1:n.237+5553T=
NM_003105.5:c.285+5553T=	NP_003096.1:n.285+5553T=
XM_011542963.1:c.285+5553T=	XP_011541265.1:n.285+5553T=
XM_011542964.1:c.285+5553T=	XP_011541266.1:n.285+5553T=
XM_011542963.3:c.285+5553T=	XP_011541265.1:n.285+5553T=
XM_017018169.2:c.-28+5341T=	XP_016873658.1:n.-28+5341T=
XM_017018171.1:c.285+5553T=	XP_016873660.1:n.285+5553T=
NM_003105.6:c.285+5553T= MANE Select	NP_003096.2:n.285+5553T=