Canonical Allele Identifier: CA942946939

Gene: SORL1

Linked Data

• dbSNP Id: rs1861531489
• gnomAD v3: 11-121490206-C-G
• gnomAD v4: 11-121490206-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490206C>G , CM000673.2:g.121490206C>G	GRCh38
NC_000011.9:g.121360915C>G , CM000673.1:g.121360915C>G	GRCh37
NC_000011.8:g.120866125C>G	NCBI36
NG_023313.1:g.42955C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.758+96C>G MANE Select	ENSP00000260197.6:n.758+96C>G
ENST00000260197.11:c.758+96C>G	ENSP00000260197.6:n.758+96C>G
ENST00000532451.1:n.710+96C>G
NM_003105.5:c.758+96C>G	NP_003096.1:n.758+96C>G
XM_011542963.1:c.758+96C>G	XP_011541265.1:n.758+96C>G
XM_011542964.1:c.758+96C>G	XP_011541266.1:n.758+96C>G
XM_011542963.3:c.758+96C>G	XP_011541265.1:n.758+96C>G
XM_017018169.2:c.446+96C>G	XP_016873658.1:n.446+96C>G
XM_017018170.2:c.233+96C>G	XP_016873659.1:n.233+96C>G
XM_017018171.1:c.758+96C>G	XP_016873660.1:n.758+96C>G
NM_003105.6:c.758+96C>G MANE Select	NP_003096.2:n.758+96C>G