Canonical Allele Identifier: CA2616498018

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558870-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558870T>G , CM000673.2:g.121558870T>G	GRCh38
NC_000011.9:g.121429579T>G , CM000673.1:g.121429579T>G	GRCh37
NC_000011.8:g.120934789T>G	NCBI36
NG_023313.1:g.111619T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2910+33T>G MANE Select	ENSP00000260197.6:n.2910+33T>G
ENST00000260197.11:c.2910+33T>G	ENSP00000260197.6:n.2910+33T>G
NM_003105.5:c.2910+33T>G	NP_003096.1:n.2910+33T>G
XM_011542963.1:c.2910+33T>G	XP_011541265.1:n.2910+33T>G
XM_011542964.1:c.2910+33T>G	XP_011541266.1:n.2910+33T>G
XM_011542965.1:c.1371+33T>G	XP_011541267.1:n.1371+33T>G
XM_011542966.1:c.270+33T>G	XP_011541268.1:n.270+33T>G
XM_011542963.3:c.2910+33T>G	XP_011541265.1:n.2910+33T>G
XM_011542965.3:c.1371+33T>G	XP_011541267.1:n.1371+33T>G
XM_017018169.2:c.2598+33T>G	XP_016873658.1:n.2598+33T>G
XM_017018170.2:c.2385+33T>G	XP_016873659.1:n.2385+33T>G
XM_017018171.1:c.2910+33T>G	XP_016873660.1:n.2910+33T>G
XM_017018172.2:c.270+33T>G	XP_016873661.1:n.270+33T>G
NM_003105.6:c.2910+33T>G MANE Select	NP_003096.2:n.2910+33T>G