Canonical Allele Identifier: CA2616498015

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558865-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558865T>A , CM000673.2:g.121558865T>A	GRCh38
NC_000011.9:g.121429574T>A , CM000673.1:g.121429574T>A	GRCh37
NC_000011.8:g.120934784T>A	NCBI36
NG_023313.1:g.111614T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2910+28T>A MANE Select	ENSP00000260197.6:n.2910+28T>A
ENST00000260197.11:c.2910+28T>A	ENSP00000260197.6:n.2910+28T>A
NM_003105.5:c.2910+28T>A	NP_003096.1:n.2910+28T>A
XM_011542963.1:c.2910+28T>A	XP_011541265.1:n.2910+28T>A
XM_011542964.1:c.2910+28T>A	XP_011541266.1:n.2910+28T>A
XM_011542965.1:c.1371+28T>A	XP_011541267.1:n.1371+28T>A
XM_011542966.1:c.270+28T>A	XP_011541268.1:n.270+28T>A
XM_011542963.3:c.2910+28T>A	XP_011541265.1:n.2910+28T>A
XM_011542965.3:c.1371+28T>A	XP_011541267.1:n.1371+28T>A
XM_017018169.2:c.2598+28T>A	XP_016873658.1:n.2598+28T>A
XM_017018170.2:c.2385+28T>A	XP_016873659.1:n.2385+28T>A
XM_017018171.1:c.2910+28T>A	XP_016873660.1:n.2910+28T>A
XM_017018172.2:c.270+28T>A	XP_016873661.1:n.270+28T>A
NM_003105.6:c.2910+28T>A MANE Select	NP_003096.2:n.2910+28T>A