Canonical Allele Identifier: CA229901140

Gene: SORL1

Linked Data

• dbSNP Id: rs945461136
• gnomAD v2: 11-121501782-G-A
• gnomAD v3: 11-121631073-G-A
• gnomAD v4: 11-121631073-G-A
• MyVariant Identifiers: chr11:g.121501782G>A (hg19) ; chr11:g.121631073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121631073G>A , CM000673.2:g.121631073G>A	GRCh38
NC_000011.9:g.121501782G>A , CM000673.1:g.121501782G>A	GRCh37
NC_000011.8:g.121006992G>A	NCBI36
NG_023313.1:g.183822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.*1510G>A MANE Select	ENSP00000260197.6:n.*1510G>A
ENST00000260197.11:c.*1510G>A	ENSP00000260197.6:n.*1510G>A
ENST00000530365.1:n.759-943G>A
NM_003105.5:c.*1510G>A	NP_003096.1:n.*1510G>A
XM_011542963.1:c.*1510G>A	XP_011541265.1:n.*1510G>A
XM_011542965.1:c.*1510G>A	XP_011541267.1:n.*1510G>A
XM_011542966.1:c.*1510G>A	XP_011541268.1:n.*1510G>A
XM_011542967.1:c.*1510G>A	XP_011541269.1:n.*1510G>A
XM_011542965.3:c.*1510G>A	XP_011541267.1:n.*1510G>A
XM_011542967.3:c.*1510G>A	XP_011541269.1:n.*1510G>A
XM_017018172.2:c.*1510G>A	XP_016873661.1:n.*1510G>A
NM_003105.6:c.*1510G>A MANE Select	NP_003096.2:n.*1510G>A