Canonical Allele Identifier: CA229968175

Gene: SORL1

Linked Data

• dbSNP Id: rs79991092
• gnomAD v2: 11-121357207-G-T
• gnomAD v3: 11-121486498-G-T
• gnomAD v4: 11-121486498-G-T
• MyVariant Identifiers: chr11:g.121357207G>T (hg19) ; chr11:g.121486498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486498G>T , CM000673.2:g.121486498G>T	GRCh38
NC_000011.9:g.121357207G>T , CM000673.1:g.121357207G>T	GRCh37
NC_000011.8:g.120862417G>T	NCBI36
NG_023313.1:g.39247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1534G>T MANE Select	ENSP00000260197.6:n.529-1534G>T
ENST00000260197.11:c.529-1534G>T	ENSP00000260197.6:n.529-1534G>T
ENST00000532451.1:n.481-1534G>T
NM_003105.5:c.529-1534G>T	NP_003096.1:n.529-1534G>T
XM_011542963.1:c.529-1534G>T	XP_011541265.1:n.529-1534G>T
XM_011542964.1:c.529-1534G>T	XP_011541266.1:n.529-1534G>T
XM_011542963.3:c.529-1534G>T	XP_011541265.1:n.529-1534G>T
XM_017018169.2:c.217-1534G>T	XP_016873658.1:n.217-1534G>T
XM_017018170.2:c.3+41G>T	XP_016873659.1:n.3+41G>T
XM_017018171.1:c.529-1534G>T	XP_016873660.1:n.529-1534G>T
NM_003105.6:c.529-1534G>T MANE Select	NP_003096.2:n.529-1534G>T