ClinVar

NM_000914.5(OPRM1):c.506T>G (p.Ile169Ser)

Gene:

OPRM1:opioid receptor mu 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.2

Genomic location:

• Chr6: 154090041 (on Assembly GRCh38)
• Chr6: 154411176 (on Assembly GRCh37)

Preferred name:

NM_000914.5(OPRM1):c.506T>G (p.Ile169Ser)

HGVS:

• NC_000006.12:g.154090041T>G
• NG_021208.2:g.84541T>G
• NM_000914.5:c.506T>GMANE SELECT
• NM_001008503.3:c.506T>G
• NM_001008504.4:c.506T>G
• NM_001008505.2:c.506T>G
• NM_001145279.4:c.785T>G
• NM_001145280.4:c.206T>G
• NM_001145281.3:c.263T>G
• NM_001145282.2:c.506T>G
• NM_001145283.2:c.506T>G
• NM_001145284.3:c.506T>G
• NM_001145285.3:c.506T>G
• NM_001145286.3:c.506T>G
• NM_001145287.3:c.206T>G
• NM_001285522.1:c.291-28642T>G
• NM_001285523.3:c.506T>G
• NM_001285524.1:c.785T>G
• NM_001285526.2:c.206T>G
• NM_001285527.1:c.206T>G
• NM_001285528.2:c.206T>G
• NP_000905.3:p.Ile169Ser
• NP_001008503.2:p.Ile169Ser
• NP_001008504.2:p.Ile169Ser
• NP_001008505.2:p.Ile169Ser
• NP_001138751.1:p.Ile262Ser
• NP_001138752.1:p.Ile69Ser
• NP_001138753.1:p.Ile88Ser
• NP_001138754.1:p.Ile169Ser
• NP_001138755.1:p.Ile169Ser
• NP_001138756.1:p.Ile169Ser
• NP_001138757.1:p.Ile169Ser
• NP_001138758.1:p.Ile169Ser
• NP_001138759.1:p.Ile69Ser
• NP_001272452.1:p.Ile169Ser
• NP_001272453.1:p.Ile262Ser
• NP_001272455.1:p.Ile69Ser
• NP_001272456.1:p.Ile69Ser
• NP_001272457.1:p.Ile69Ser
• LRG_1007t1:c.506T>G
• LRG_1007t2:c.506T>G
• LRG_1007:g.84541T>G
• LRG_1007p1:p.Ile169Ser
• LRG_1007p2:p.Ile169Ser
• NC_000006.11:g.154411176T>G
• NR_104348.1:n.640T>G
• NR_104349.1:n.640T>G
• NR_104351.1:n.640T>G

This HGVS expression did not pass validation

Protein change:

I169S

Links:

dbSNP: rs1583477398

NCBI 1000 Genomes Browser:

rs1583477398

Molecular consequence:

• NM_001285522.1:c.291-28642T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000914.5:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001008503.3:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001008504.4:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001008505.2:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145279.4:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145280.4:c.206T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145281.3:c.263T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145282.2:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145283.2:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145284.3:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145285.3:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145286.3:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145287.3:c.206T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285523.3:c.506T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285524.1:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285526.2:c.206T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285527.1:c.206T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285528.2:c.206T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_104348.1:n.640T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104349.1:n.640T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104351.1:n.640T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]