Canonical Allele Identifier: CA477218174

Gene: SORL1

Linked Data

• dbSNP Id: rs1268500725
• gnomAD v2: 11-121393695-A-T
• gnomAD v4: 11-121522986-A-T
• MyVariant Identifiers: chr11:g.121393695A>T (hg19) ; chr11:g.121522986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522986A>T , CM000673.2:g.121522986A>T	GRCh38
NC_000011.9:g.121393695A>T , CM000673.1:g.121393695A>T	GRCh37
NC_000011.8:g.120898905A>T	NCBI36
NG_023313.1:g.75735A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.1593A>T MANE Select	ENSP00000260197.6:p.Arg531=
ENST00000260197.11:c.1593A>T	ENSP00000260197.6:p.Arg531=
ENST00000532451.1:n.1545A>T
NM_003105.5:c.1593A>T	NP_003096.1:p.Arg531=
XM_011542963.1:c.1593A>T	XP_011541265.1:p.Arg531=
XM_011542964.1:c.1593A>T	XP_011541266.1:p.Arg531=
XM_011542965.1:c.-30A>T	XP_011541267.1:n.-30A>T
XM_011542963.3:c.1593A>T	XP_011541265.1:p.Arg531=
XM_011542965.3:c.-30A>T	XP_011541267.1:n.-30A>T
XM_017018169.2:c.1281A>T	XP_016873658.1:p.Arg427=
XM_017018170.2:c.1068A>T	XP_016873659.1:p.Arg356=
XM_017018171.1:c.1593A>T	XP_016873660.1:p.Arg531=
NM_003105.6:c.1593A>T MANE Select	NP_003096.2:p.Arg531=