Canonical Allele Identifier: CA229977246

Gene: SORL1

Linked Data

• dbSNP Id: rs117260922
• MyVariant Identifiers: chr11:g.121367627G>T (hg19) ; chr11:g.121496918G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496918G>T , CM000673.2:g.121496918G>T	GRCh38
NC_000011.9:g.121367627G>T , CM000673.1:g.121367627G>T	GRCh37
NC_000011.8:g.120872837G>T	NCBI36
NG_023313.1:g.49667G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.808G>T MANE Select	ENSP00000260197.6:p.Glu270Ter
ENST00000260197.11:c.808G>T	ENSP00000260197.6:p.Glu270Ter
ENST00000532451.1:n.760G>T
NM_003105.5:c.808G>T	NP_003096.1:p.Glu270Ter
XM_011542963.1:c.808G>T	XP_011541265.1:p.Glu270Ter
XM_011542964.1:c.808G>T	XP_011541266.1:p.Glu270Ter
XM_011542963.3:c.808G>T	XP_011541265.1:p.Glu270Ter
XM_017018169.2:c.496G>T	XP_016873658.1:p.Glu166Ter
XM_017018170.2:c.283G>T	XP_016873659.1:p.Glu95Ter
XM_017018171.1:c.808G>T	XP_016873660.1:p.Glu270Ter
NM_003105.6:c.808G>T MANE Select	NP_003096.2:p.Glu270Ter