Canonical Allele Identifier: CA229977050

Gene: SORL1

Linked Data

• dbSNP Id: rs139983734
• gnomAD v2: 11-121367449-C-T
• gnomAD v3: 11-121496740-C-T
• gnomAD v4: 11-121496740-C-T
• MyVariant Identifiers: chr11:g.121367449C>T (hg19) ; chr11:g.121496740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496740C>T , CM000673.2:g.121496740C>T	GRCh38
NC_000011.9:g.121367449C>T , CM000673.1:g.121367449C>T	GRCh37
NC_000011.8:g.120872659C>T	NCBI36
NG_023313.1:g.49489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-129C>T MANE Select	ENSP00000260197.6:n.759-129C>T
ENST00000260197.11:c.759-129C>T	ENSP00000260197.6:n.759-129C>T
ENST00000532451.1:n.711-129C>T
NM_003105.5:c.759-129C>T	NP_003096.1:n.759-129C>T
XM_011542963.1:c.759-129C>T	XP_011541265.1:n.759-129C>T
XM_011542964.1:c.759-129C>T	XP_011541266.1:n.759-129C>T
XM_011542963.3:c.759-129C>T	XP_011541265.1:n.759-129C>T
XM_017018169.2:c.447-129C>T	XP_016873658.1:n.447-129C>T
XM_017018170.2:c.234-129C>T	XP_016873659.1:n.234-129C>T
XM_017018171.1:c.759-129C>T	XP_016873660.1:n.759-129C>T
NM_003105.6:c.759-129C>T MANE Select	NP_003096.2:n.759-129C>T