Canonical Allele Identifier: CA383036179

Gene: SORL1

Linked Data

• dbSNP Id: rs1289047896
• gnomAD v3: 11-121558825-T-G
• gnomAD v4: 11-121558825-T-G
• MyVariant Identifiers: chr11:g.121429534T>G (hg19) ; chr11:g.121558825T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558825T>G , CM000673.2:g.121558825T>G	GRCh38
NC_000011.9:g.121429534T>G , CM000673.1:g.121429534T>G	GRCh37
NC_000011.8:g.120934744T>G	NCBI36
NG_023313.1:g.111574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2898T>G MANE Select	ENSP00000260197.6:p.Ile966Met
ENST00000260197.11:c.2898T>G	ENSP00000260197.6:p.Ile966Met
ENST00000529445.1:n.604T>G
NM_003105.5:c.2898T>G	NP_003096.1:p.Ile966Met
XM_011542963.1:c.2898T>G	XP_011541265.1:p.Ile966Met
XM_011542964.1:c.2898T>G	XP_011541266.1:p.Ile966Met
XM_011542965.1:c.1359T>G	XP_011541267.1:p.Ile453Met
XM_011542966.1:c.258T>G	XP_011541268.1:p.Ile86Met
XM_011542963.3:c.2898T>G	XP_011541265.1:p.Ile966Met
XM_011542965.3:c.1359T>G	XP_011541267.1:p.Ile453Met
XM_017018169.2:c.2586T>G	XP_016873658.1:p.Ile862Met
XM_017018170.2:c.2373T>G	XP_016873659.1:p.Ile791Met
XM_017018171.1:c.2898T>G	XP_016873660.1:p.Ile966Met
XM_017018172.2:c.258T>G	XP_016873661.1:p.Ile86Met
NM_003105.6:c.2898T>G MANE Select	NP_003096.2:p.Ile966Met