Canonical Allele Identifier: CA383033728

Gene: SORL1

Linked Data

• dbSNP Id: rs1377446277
• gnomAD v3: 11-121553988-A-T
• gnomAD v4: 11-121553988-A-T
• MyVariant Identifiers: chr11:g.121424697A>T (hg19) ; chr11:g.121553988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553988A>T , CM000673.2:g.121553988A>T	GRCh38
NC_000011.9:g.121424697A>T , CM000673.1:g.121424697A>T	GRCh37
NC_000011.8:g.120929907A>T	NCBI36
NG_023313.1:g.106737A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2318A>T MANE Select	ENSP00000260197.6:p.Asp773Val
ENST00000260197.11:c.2318A>T	ENSP00000260197.6:p.Asp773Val
NM_003105.5:c.2318A>T	NP_003096.1:p.Asp773Val
XM_011542963.1:c.2318A>T	XP_011541265.1:p.Asp773Val
XM_011542964.1:c.2318A>T	XP_011541266.1:p.Asp773Val
XM_011542965.1:c.779A>T	XP_011541267.1:p.Asp260Val
XM_011542963.3:c.2318A>T	XP_011541265.1:p.Asp773Val
XM_011542965.3:c.779A>T	XP_011541267.1:p.Asp260Val
XM_017018169.2:c.2006A>T	XP_016873658.1:p.Asp669Val
XM_017018170.2:c.1793A>T	XP_016873659.1:p.Asp598Val
XM_017018171.1:c.2318A>T	XP_016873660.1:p.Asp773Val
XM_017018172.2:c.-231A>T	XP_016873661.1:n.-231A>T
NM_003105.6:c.2318A>T MANE Select	NP_003096.2:p.Asp773Val