Canonical Allele Identifier: CA672576760

Gene: SORL1

Linked Data

• dbSNP Id: rs1259494674
• gnomAD v3: 11-121490272-A-T
• gnomAD v4: 11-121490272-A-T
• MyVariant Identifiers: chr11:g.121360981A>T (hg19) ; chr11:g.121490272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490272A>T , CM000673.2:g.121490272A>T	GRCh38
NC_000011.9:g.121360981A>T , CM000673.1:g.121360981A>T	GRCh37
NC_000011.8:g.120866191A>T	NCBI36
NG_023313.1:g.43021A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.758+162A>T MANE Select	ENSP00000260197.6:n.758+162A>T
ENST00000260197.11:c.758+162A>T	ENSP00000260197.6:n.758+162A>T
ENST00000532451.1:n.710+162A>T
NM_003105.5:c.758+162A>T	NP_003096.1:n.758+162A>T
XM_011542963.1:c.758+162A>T	XP_011541265.1:n.758+162A>T
XM_011542964.1:c.758+162A>T	XP_011541266.1:n.758+162A>T
XM_011542963.3:c.758+162A>T	XP_011541265.1:n.758+162A>T
XM_017018169.2:c.446+162A>T	XP_016873658.1:n.446+162A>T
XM_017018170.2:c.233+162A>T	XP_016873659.1:n.233+162A>T
XM_017018171.1:c.758+162A>T	XP_016873660.1:n.758+162A>T
NM_003105.6:c.758+162A>T MANE Select	NP_003096.2:n.758+162A>T