Canonical Allele Identifier: CA374795288
Gene: OR1N2 HGNC NCBI
OR1L8 HGNC NCBI
OR1J2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.122553380C>T
GRCh37 chr9:g.125315659C>T
Revel Score:
ENST00000373688 (MANE Select) 0.091
gnomAD v2:
9:125315659 C / T
gnomAD v4:
chr9-122553380-C-T
Joint Max Group AF 0.00002255 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar Allele:
2242458
ClinVar RCV:
RCV004111453
ClinVar Variation:
2250016
dbSNP:
773511857
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.122553380C>T , CM000671.2:g.122553380C>T GRCh38
NC_000009.11:g.125315659C>T , CM000671.1:g.125315659C>T GRCh37
NC_000009.10:g.124355480C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373688.3:c.169C>T (OR1N2) MANE Select ENSP00000362792.3:p.His57Tyr
ENST00000616791.3:c.157C>T (OR1N2) ENSP00000483293.3:p.His53Tyr
ENST00000373688.2:c.211C>T (OR1N2) ENSP00000362792.2:p.His71Tyr
ENST00000616791.1:c.157C>T (OR1N2) ENSP00000483293.1:p.His53Tyr
NM_001004457.1:c.211C>T (OR1N2) NP_001004457.1:p.His71Tyr
XM_011518243.1:c.*23-6851G>A (OR1L8) XP_011516545.1:n.*23-6851G>A
XR_929761.1:n.1915-26573C>T (OR1J2)
XM_017014285.1:c.*23-6851G>A (OR1L8) XP_016869774.1:n.*23-6851G>A
XR_002956773.1:n.1915-26573C>T (OR1J2)
NM_001004457.2:c.169C>T (OR1N2) MANE Select NP_001004457.2:p.His57Tyr
Search 100 bp 5'
Search 100 bp 3'