Canonical Allele Identifier: CA229864561

Gene: SORL1

Linked Data

• dbSNP Id: rs113413978
• gnomAD v4: 11-121522592-C-G
• MyVariant Identifiers: chr11:g.121393301C>G (hg19) ; chr11:g.121522592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522592C>G , CM000673.2:g.121522592C>G	GRCh38
NC_000011.9:g.121393301C>G , CM000673.1:g.121393301C>G	GRCh37
NC_000011.8:g.120898511C>G	NCBI36
NG_023313.1:g.75341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1411C>G MANE Select	ENSP00000260197.6:p.Gln471Glu
ENST00000260197.11:c.1411C>G	ENSP00000260197.6:p.Gln471Glu
ENST00000532451.1:n.1363C>G
NM_003105.5:c.1411C>G	NP_003096.1:p.Gln471Glu
XM_011542963.1:c.1411C>G	XP_011541265.1:p.Gln471Glu
XM_011542964.1:c.1411C>G	XP_011541266.1:p.Gln471Glu
XM_011542965.1:c.-212C>G	XP_011541267.1:n.-212C>G
XM_011542963.3:c.1411C>G	XP_011541265.1:p.Gln471Glu
XM_011542965.3:c.-212C>G	XP_011541267.1:n.-212C>G
XM_017018169.2:c.1099C>G	XP_016873658.1:p.Gln367Glu
XM_017018170.2:c.886C>G	XP_016873659.1:p.Gln296Glu
XM_017018171.1:c.1411C>G	XP_016873660.1:p.Gln471Glu
NM_003105.6:c.1411C>G MANE Select	NP_003096.2:p.Gln471Glu