Canonical Allele Identifier: CA229979775

Gene: SORL1

Linked Data

• dbSNP Id: rs751534770
• gnomAD v2: 11-121371082-G-A
• gnomAD v3: 11-121500373-G-A
• gnomAD v4: 11-121500373-G-A
• MyVariant Identifiers: chr11:g.121371082G>A (hg19) ; chr11:g.121500373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500373G>A , CM000673.2:g.121500373G>A	GRCh38
NC_000011.9:g.121371082G>A , CM000673.1:g.121371082G>A	GRCh37
NC_000011.8:g.120876292G>A	NCBI36
NG_023313.1:g.53122G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.939+3324G>A MANE Select	ENSP00000260197.6:n.939+3324G>A
ENST00000260197.11:c.939+3324G>A	ENSP00000260197.6:n.939+3324G>A
ENST00000532451.1:n.891+3324G>A
NM_003105.5:c.939+3324G>A	NP_003096.1:n.939+3324G>A
XM_011542963.1:c.939+3324G>A	XP_011541265.1:n.939+3324G>A
XM_011542964.1:c.939+3324G>A	XP_011541266.1:n.939+3324G>A
XM_011542963.3:c.939+3324G>A	XP_011541265.1:n.939+3324G>A
XM_011542965.3:c.-684+3324G>A	XP_011541267.1:n.-684+3324G>A
XM_017018169.2:c.627+3324G>A	XP_016873658.1:n.627+3324G>A
XM_017018170.2:c.414+3324G>A	XP_016873659.1:n.414+3324G>A
XM_017018171.1:c.939+3324G>A	XP_016873660.1:n.939+3324G>A
NM_003105.6:c.939+3324G>A MANE Select	NP_003096.2:n.939+3324G>A