Canonical Allele Identifier: CA723888
Gene: OPRD1 HGNC NCBI
COSMIC:
COSM3749049 (not active)
MyVariant.info:
GRCh38 chr1:g.28812463G>T
GRCh37 chr1:g.29138975G>T
Revel Score:
ENST00000234961 (MANE Select) 0.104
ENST00000536280 0.104
gnomAD v2:
1:29138975 G / T
gnomAD v3:
1:28812463 G / T
gnomAD v4:
chr1-28812463-G-T
Joint Max Group AF 0.99116832 (EAS)
Genomes Max Group AF 0.97587621 (EAS)
Exomes Max Group AF 0.99068153 (EAS)
dbSNP:
1042114
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.28812463G>T , CM000663.2:g.28812463G>T GRCh38
NC_000001.10:g.29138975G>T , CM000663.1:g.29138975G>T GRCh37
NC_000001.9:g.29011562G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234961.7:c.80G>T MANE Select ENSP00000234961.2:p.Cys27Phe
ENST00000234961.6:c.80G>T ENSP00000234961.2:p.Cys27Phe
ENST00000621425.1:c.80G>T ENSP00000477970.1:p.Cys27Phe
NM_000911.3:c.80G>T NP_000902.3:p.Cys27Phe
NM_000911.4:c.80G>T MANE Select NP_000902.3:p.Cys27Phe
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