Canonical Allele Identifier: CA942938203

Gene: SORL1

Linked Data

• dbSNP Id: rs1862524913
• gnomAD v3: 11-121552854-T-G
• gnomAD v4: 11-121552854-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552854T>G , CM000673.2:g.121552854T>G	GRCh38
NC_000011.9:g.121423563T>G , CM000673.1:g.121423563T>G	GRCh37
NC_000011.8:g.120928773T>G	NCBI36
NG_023313.1:g.105603T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2267-1083T>G MANE Select	ENSP00000260197.6:n.2267-1083T>G
ENST00000260197.11:c.2267-1083T>G	ENSP00000260197.6:n.2267-1083T>G
NM_003105.5:c.2267-1083T>G	NP_003096.1:n.2267-1083T>G
XM_011542963.1:c.2267-1083T>G	XP_011541265.1:n.2267-1083T>G
XM_011542964.1:c.2267-1083T>G	XP_011541266.1:n.2267-1083T>G
XM_011542965.1:c.728-1083T>G	XP_011541267.1:n.728-1083T>G
XM_011542963.3:c.2267-1083T>G	XP_011541265.1:n.2267-1083T>G
XM_011542965.3:c.728-1083T>G	XP_011541267.1:n.728-1083T>G
XM_017018169.2:c.1955-1083T>G	XP_016873658.1:n.1955-1083T>G
XM_017018170.2:c.1742-1083T>G	XP_016873659.1:n.1742-1083T>G
XM_017018171.1:c.2267-1083T>G	XP_016873660.1:n.2267-1083T>G
XM_017018172.2:c.-282-1083T>G	XP_016873661.1:n.-282-1083T>G
NM_003105.6:c.2267-1083T>G MANE Select	NP_003096.2:n.2267-1083T>G