Canonical Allele Identifier: CA6328480
Gene: SORL1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.121496918G>A
GRCh37 chr11:g.121367627G>A
Revel Score:
ENST00000260197 (MANE Select) 0.310
gnomAD v2:
11:121367627 G / A
gnomAD v3:
11:121496918 G / A
gnomAD v4:
chr11-121496918-G-A
Joint Max Group AF 0.0444273 (MID)
Genomes Max Group AF 0.01990532 (NFE)
Exomes Max Group AF 0.04502608 (MID)
ClinVar RCV:
RCV001579640
RCV003426179
ClinVar Variation:
1209973
dbSNP:
117260922
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496918G>A , CM000673.2:g.121496918G>A GRCh38
NC_000011.9:g.121367627G>A , CM000673.1:g.121367627G>A GRCh37
NC_000011.8:g.120872837G>A NCBI36
NG_023313.1:g.49667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.808G>A MANE Select ENSP00000260197.6:p.Glu270Lys
ENST00000260197.11:c.808G>A ENSP00000260197.6:p.Glu270Lys
ENST00000532451.1:n.760G>A
NM_003105.5:c.808G>A NP_003096.1:p.Glu270Lys
XM_011542963.1:c.808G>A XP_011541265.1:p.Glu270Lys
XM_011542964.1:c.808G>A XP_011541266.1:p.Glu270Lys
XM_011542963.3:c.808G>A XP_011541265.1:p.Glu270Lys
XM_017018169.2:c.496G>A XP_016873658.1:p.Glu166Lys
XM_017018170.2:c.283G>A XP_016873659.1:p.Glu95Lys
XM_017018171.1:c.808G>A XP_016873660.1:p.Glu270Lys
NM_003105.6:c.808G>A MANE Select NP_003096.2:p.Glu270Lys
Search 100 bp 5'
Search 100 bp 3'