Canonical Allele Identifier: CA602230899

Gene: SORL1

Linked Data

• dbSNP Id: rs1384697428
• gnomAD v2: 11-121429568-G-A
• gnomAD v3: 11-121558859-G-A
• gnomAD v4: 11-121558859-G-A
• MyVariant Identifiers: chr11:g.121429568G>A (hg19) ; chr11:g.121558859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558859G>A , CM000673.2:g.121558859G>A	GRCh38
NC_000011.9:g.121429568G>A , CM000673.1:g.121429568G>A	GRCh37
NC_000011.8:g.120934778G>A	NCBI36
NG_023313.1:g.111608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2910+22G>A MANE Select	ENSP00000260197.6:n.2910+22G>A
ENST00000260197.11:c.2910+22G>A	ENSP00000260197.6:n.2910+22G>A
NM_003105.5:c.2910+22G>A	NP_003096.1:n.2910+22G>A
XM_011542963.1:c.2910+22G>A	XP_011541265.1:n.2910+22G>A
XM_011542964.1:c.2910+22G>A	XP_011541266.1:n.2910+22G>A
XM_011542965.1:c.1371+22G>A	XP_011541267.1:n.1371+22G>A
XM_011542966.1:c.270+22G>A	XP_011541268.1:n.270+22G>A
XM_011542963.3:c.2910+22G>A	XP_011541265.1:n.2910+22G>A
XM_011542965.3:c.1371+22G>A	XP_011541267.1:n.1371+22G>A
XM_017018169.2:c.2598+22G>A	XP_016873658.1:n.2598+22G>A
XM_017018170.2:c.2385+22G>A	XP_016873659.1:n.2385+22G>A
XM_017018171.1:c.2910+22G>A	XP_016873660.1:n.2910+22G>A
XM_017018172.2:c.270+22G>A	XP_016873661.1:n.270+22G>A
NM_003105.6:c.2910+22G>A MANE Select	NP_003096.2:n.2910+22G>A