Canonical Allele Identifier: CA229942490

Gene: SORL1

Linked Data

• dbSNP Id: rs1013218671
• gnomAD v2: 11-121328865-A-G
• gnomAD v3: 11-121458156-A-G
• gnomAD v4: 11-121458156-A-G
• MyVariant Identifiers: chr11:g.121328865A>G (hg19) ; chr11:g.121458156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121458156A>G , CM000673.2:g.121458156A>G	GRCh38
NC_000011.9:g.121328865A>G , CM000673.1:g.121328865A>G	GRCh37
NC_000011.8:g.120834075A>G	NCBI36
NG_023313.1:g.10905A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.285+5540A>G MANE Select	ENSP00000260197.6:n.285+5540A>G
ENST00000260197.11:c.285+5540A>G	ENSP00000260197.6:n.285+5540A>G
ENST00000532451.1:n.237+5540A>G
NM_003105.5:c.285+5540A>G	NP_003096.1:n.285+5540A>G
XM_011542963.1:c.285+5540A>G	XP_011541265.1:n.285+5540A>G
XM_011542964.1:c.285+5540A>G	XP_011541266.1:n.285+5540A>G
XM_011542963.3:c.285+5540A>G	XP_011541265.1:n.285+5540A>G
XM_017018169.2:c.-28+5328A>G	XP_016873658.1:n.-28+5328A>G
XM_017018171.1:c.285+5540A>G	XP_016873660.1:n.285+5540A>G
NM_003105.6:c.285+5540A>G MANE Select	NP_003096.2:n.285+5540A>G