Canonical Allele Identifier: CA602415707

Gene: SORL1

Linked Data

• dbSNP Id: rs189501879
• gnomAD v2: 11-121375983-G-A
• gnomAD v3: 11-121505274-G-A
• gnomAD v4: 11-121505274-G-A
• MyVariant Identifiers: chr11:g.121375983G>A (hg19) ; chr11:g.121505274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505274G>A , CM000673.2:g.121505274G>A	GRCh38
NC_000011.9:g.121375983G>A , CM000673.1:g.121375983G>A	GRCh37
NC_000011.8:g.120881193G>A	NCBI36
NG_023313.1:g.58023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.940-7729G>A MANE Select	ENSP00000260197.6:n.940-7729G>A
ENST00000260197.11:c.940-7729G>A	ENSP00000260197.6:n.940-7729G>A
ENST00000532451.1:n.892-7729G>A
NM_003105.5:c.940-7729G>A	NP_003096.1:n.940-7729G>A
XM_011542963.1:c.940-7729G>A	XP_011541265.1:n.940-7729G>A
XM_011542964.1:c.940-7729G>A	XP_011541266.1:n.940-7729G>A
XM_011542963.3:c.940-7729G>A	XP_011541265.1:n.940-7729G>A
XM_011542965.3:c.-683-7729G>A	XP_011541267.1:n.-683-7729G>A
XM_017018169.2:c.628-7729G>A	XP_016873658.1:n.628-7729G>A
XM_017018170.2:c.415-7729G>A	XP_016873659.1:n.415-7729G>A
XM_017018171.1:c.940-7729G>A	XP_016873660.1:n.940-7729G>A
NM_003105.6:c.940-7729G>A MANE Select	NP_003096.2:n.940-7729G>A