Canonical Allele Identifier: CA229971470

Gene: SORL1

Linked Data

• dbSNP Id: rs915975167
• gnomAD v2: 11-121361122-C-T
• gnomAD v3: 11-121490413-C-T
• gnomAD v4: 11-121490413-C-T
• MyVariant Identifiers: chr11:g.121361122C>T (hg19) ; chr11:g.121490413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490413C>T , CM000673.2:g.121490413C>T	GRCh38
NC_000011.9:g.121361122C>T , CM000673.1:g.121361122C>T	GRCh37
NC_000011.8:g.120866332C>T	NCBI36
NG_023313.1:g.43162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.758+303C>T MANE Select	ENSP00000260197.6:n.758+303C>T
ENST00000260197.11:c.758+303C>T	ENSP00000260197.6:n.758+303C>T
ENST00000532451.1:n.710+303C>T
NM_003105.5:c.758+303C>T	NP_003096.1:n.758+303C>T
XM_011542963.1:c.758+303C>T	XP_011541265.1:n.758+303C>T
XM_011542964.1:c.758+303C>T	XP_011541266.1:n.758+303C>T
XM_011542963.3:c.758+303C>T	XP_011541265.1:n.758+303C>T
XM_017018169.2:c.446+303C>T	XP_016873658.1:n.446+303C>T
XM_017018170.2:c.233+303C>T	XP_016873659.1:n.233+303C>T
XM_017018171.1:c.758+303C>T	XP_016873660.1:n.758+303C>T
NM_003105.6:c.758+303C>T MANE Select	NP_003096.2:n.758+303C>T