Canonical Allele Identifier: CA383036042

Gene: SORL1

Linked Data

• dbSNP Id: rs1240178603
• gnomAD v2: 11-121429469-C-G
• MyVariant Identifiers: chr11:g.121429469C>G (hg19) ; chr11:g.121558760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558760C>G , CM000673.2:g.121558760C>G	GRCh38
NC_000011.9:g.121429469C>G , CM000673.1:g.121429469C>G	GRCh37
NC_000011.8:g.120934679C>G	NCBI36
NG_023313.1:g.111509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2833C>G MANE Select	ENSP00000260197.6:p.Arg945Gly
ENST00000260197.11:c.2833C>G	ENSP00000260197.6:p.Arg945Gly
ENST00000524873.1:n.561C>G
ENST00000529445.1:n.539C>G
NM_003105.5:c.2833C>G	NP_003096.1:p.Arg945Gly
XM_011542963.1:c.2833C>G	XP_011541265.1:p.Arg945Gly
XM_011542964.1:c.2833C>G	XP_011541266.1:p.Arg945Gly
XM_011542965.1:c.1294C>G	XP_011541267.1:p.Arg432Gly
XM_011542966.1:c.193C>G	XP_011541268.1:p.Arg65Gly
XM_011542963.3:c.2833C>G	XP_011541265.1:p.Arg945Gly
XM_011542965.3:c.1294C>G	XP_011541267.1:p.Arg432Gly
XM_017018169.2:c.2521C>G	XP_016873658.1:p.Arg841Gly
XM_017018170.2:c.2308C>G	XP_016873659.1:p.Arg770Gly
XM_017018171.1:c.2833C>G	XP_016873660.1:p.Arg945Gly
XM_017018172.2:c.193C>G	XP_016873661.1:p.Arg65Gly
NM_003105.6:c.2833C>G MANE Select	NP_003096.2:p.Arg945Gly