{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366152520", "communityStandardTitle": [ "NM_000914.5(OPRM1):c.128A>G (p.Asp43Gly)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.154360807A>G?assembly=hg19", "id": "chr6:g.154360807A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.154039672A>G?assembly=hg38", "id": "chr6:g.154039672A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/754187495", "rs": 754187495 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-154039672-A-G?dataset=gnomad_r3", "id": "6-154039672-A-G", "variant": "6:154039672 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-154039672-A-G?dataset=gnomad_r4", "id": "6-154039672-A-G", "variant": "6:154039672 A / G" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 154039672, "referenceAllele": "A", "start": 154039671 } ], "hgvs": [ "NC_000006.12:g.154039672A>G", "CM000668.2:g.154039672A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 154360807, "referenceAllele": "A", "start": 154360806 } ], "hgvs": [ "NC_000006.11:g.154360807A>G", "CM000668.1:g.154360807A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 154402500, "referenceAllele": "A", "start": 154402499 } ], "hgvs": [ "NC_000006.10:g.154402500A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "G", "end": 34172, "referenceAllele": "A", "start": 34171 } ], "hgvs": [ "NG_021208.1:g.34172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003482" }, { "coordinates": [ { "allele": "G", "end": 34172, "referenceAllele": "A", "start": 34171 } ], "hgvs": [ "NG_021208.2:g.34172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616247" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000330432.12:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000328264.7:p.Asp43Gly", "hgvsWellDefined": "ENSP00000328264.7:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747064", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330432.12:c.128A>G" }, "RefSeq": { "hgvs": "NM_000914.5:c.128A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328264.7:p.Asp43Gly" }, "RefSeq": { "hgvs": "NP_000905.3:p.Asp43Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000229768.9:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000229768.5:p.Asp43Gly", "hgvsWellDefined": "ENSP00000229768.5:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS248710" }, { "coordinates": [ { "allele": "G", "end": 365, "referenceAllele": "A", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000330432.11:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000328264.7:p.Asp43Gly", "hgvsWellDefined": "ENSP00000328264.7:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS259234" }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000337049.8:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000338381.4:p.Asp43Gly", "hgvsWellDefined": "ENSP00000338381.4:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS260414" }, { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000360422.8:c.314A>G" ], "proteinEffect": { "hgvs": "ENSP00000353598.5:p.Asp105Gly", "hgvsWellDefined": "ENSP00000353598.5:p.Asp105Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS265124" }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000414028.6:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000399359.2:p.Asp43Gly", "hgvsWellDefined": "ENSP00000399359.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS283339" }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000419506.6:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000403549.2:p.Asp43Gly", "hgvsWellDefined": "ENSP00000403549.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS285919" }, { "coordinates": [ { "allele": "G", "end": 324, "referenceAllele": "A", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000428397.6:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000411903.2:p.Asp43Gly", "hgvsWellDefined": "ENSP00000411903.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS290180" }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000434900.6:c.407A>G" ], "proteinEffect": { "hgvs": "ENSP00000394624.2:p.Asp136Gly", "hgvsWellDefined": "ENSP00000394624.2:p.Asp136Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS293265" }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000435918.6:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000413752.2:p.Asp43Gly", "hgvsWellDefined": "ENSP00000413752.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS293733" }, { "coordinates": [ { "allele": "G", "end": 217, "referenceAllele": "A", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000452687.6:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000410497.2:p.Asp43Gly", "hgvsWellDefined": "ENSP00000410497.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS301733" }, { "coordinates": [ { "allele": "G", "end": 59, "endIntronDirection": "+", "endIntronOffset": 29113, "referenceAllele": "A", "start": 59, "startIntronDirection": "+", "startIntronOffset": 29112 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000518759.5:c.47+29113A>G" ], "proteinEffect": { "hgvs": "ENSP00000430260.1:n.47+29113A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS346143" }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000519083.5:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000431048.1:p.Asp43Gly", "hgvsWellDefined": "ENSP00000431048.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS346393" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000520282.5:c.272A>G" ], "proteinEffect": { "hgvs": "ENSP00000430247.1:p.Asp91Gly", "hgvsWellDefined": "ENSP00000430247.1:p.Asp91Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS347355" }, { "coordinates": [ { "allele": "G", "end": 518, "endIntronDirection": "+", "endIntronOffset": 28654, "referenceAllele": "A", "start": 518, "startIntronDirection": "+", "startIntronOffset": 28653 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000520708.5:c.-11+28654A>G" ], "proteinEffect": { "hgvs": "ENSP00000430876.1:n.-11+28654A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS347694" }, { "coordinates": [ { "allele": "G", "end": 198, "referenceAllele": "A", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000522739.5:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000428018.1:p.Asp43Gly", "hgvsWellDefined": "ENSP00000428018.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS349287" }, { "coordinates": [ { "allele": "G", "end": 309, "referenceAllele": "A", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000523520.1:n.309A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS349885" }, { "coordinates": [ { "allele": "G", "end": 194, "referenceAllele": "A", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000524150.2:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000430575.1:p.Asp43Gly", "hgvsWellDefined": "ENSP00000430575.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS350368" }, { "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "A", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "ENST00000524163.5:c.128A>G" ], "proteinEffect": { "hgvs": "ENSP00000430097.1:p.Asp43Gly", "hgvsWellDefined": "ENSP00000430097.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS350379" }, { "@id": "http://reg.genome.network/allele/PA3072365103", "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_000914.4:c.128A>G" ], "proteinEffect": { "hgvs": "NP_000905.3:p.Asp43Gly", "hgvsWellDefined": "NP_000905.3:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006939" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001008503.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001008503.2:p.Asp43Gly", "hgvsWellDefined": "NP_001008503.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS008010" }, { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001008504.3:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001008504.2:p.Asp43Gly", "hgvsWellDefined": "NP_001008504.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS008011" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001008505.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001008505.2:p.Asp43Gly", "hgvsWellDefined": "NP_001008505.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS008012" }, { "coordinates": [ { "allele": "G", "end": 930, "referenceAllele": "A", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145279.3:c.407A>G" ], "proteinEffect": { "hgvs": "NP_001138751.1:p.Asp136Gly", "hgvsWellDefined": "NP_001138751.1:p.Asp136Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS013555" }, { "coordinates": [ { "allele": "G", "end": 523, "endIntronDirection": "+", "endIntronOffset": 28654, "referenceAllele": "A", "start": 523, "startIntronDirection": "+", "startIntronOffset": 28653 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145280.3:c.-11+28654A>G" ], "proteinEffect": { "hgvs": "NP_001138752.1:n.-11+28654A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS013556" }, { "coordinates": [ { "allele": "G", "end": 64, "endIntronDirection": "+", "endIntronOffset": 29113, "referenceAllele": "A", "start": 64, "startIntronDirection": "+", "startIntronOffset": 29112 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145281.2:c.47+29113A>G" ], "proteinEffect": { "hgvs": "NP_001138753.1:n.47+29113A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS013557" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145282.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138754.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138754.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS013558" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145283.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138755.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138755.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS013559" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145284.3:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138756.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138756.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS013560" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145285.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138757.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138757.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS013561" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145286.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138758.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138758.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS013562" }, { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001285522.1:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001272451.1:p.Asp43Gly", "hgvsWellDefined": "NP_001272451.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022686" }, { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001285523.1:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001272452.1:p.Asp43Gly", "hgvsWellDefined": "NP_001272452.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022687" }, { "coordinates": [ { "allele": "G", "end": 466, "referenceAllele": "A", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001285524.1:c.407A>G" ], "proteinEffect": { "hgvs": "NP_001272453.1:p.Asp136Gly", "hgvsWellDefined": "NP_001272453.1:p.Asp136Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022688" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NR_104348.1:n.262A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS053407" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NR_104349.1:n.262A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS053408" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NR_104350.1:n.262A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS053409" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NR_104351.1:n.262A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS053410" }, { "coordinates": [ { "allele": "G", "end": 406, "referenceAllele": "A", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "XM_006715497.2:c.314A>G" ], "proteinEffect": { "hgvs": "XP_006715560.1:p.Asp105Gly", "hgvsWellDefined": "XP_006715560.1:p.Asp105Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071188" }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "XM_011535849.1:c.407A>G" ], "proteinEffect": { "hgvs": "XP_011534151.1:p.Asp136Gly", "hgvsWellDefined": "XP_011534151.1:p.Asp136Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS102851" }, { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001285523.2:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001272452.1:p.Asp43Gly", "hgvsWellDefined": "NP_001272452.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS512166" }, { "coordinates": [ { "allele": "G", "end": 427, "referenceAllele": "A", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "XM_017010907.2:c.314A>G" ], "proteinEffect": { "hgvs": "XP_016866396.1:p.Asp105Gly", "hgvsWellDefined": "XP_016866396.1:p.Asp105Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS564866" }, { "@id": "http://reg.genome.network/allele/PA3072365103", "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_000914.5:c.128A>G" ], "proteinEffect": { "hgvs": "NP_000905.3:p.Asp43Gly", "hgvsWellDefined": "NP_000905.3:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS710892", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330432.12:c.128A>G" }, "RefSeq": { "hgvs": "NM_000914.5:c.128A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328264.7:p.Asp43Gly" }, "RefSeq": { "hgvs": "NP_000905.3:p.Asp43Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001008503.3:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001008503.2:p.Asp43Gly", "hgvsWellDefined": "NP_001008503.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711249" }, { "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001008504.4:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001008504.2:p.Asp43Gly", "hgvsWellDefined": "NP_001008504.2:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711250" }, { "coordinates": [ { "allele": "G", "end": 930, "referenceAllele": "A", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145279.4:c.407A>G" ], "proteinEffect": { "hgvs": "NP_001138751.1:p.Asp136Gly", "hgvsWellDefined": "NP_001138751.1:p.Asp136Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712785" }, { "coordinates": [ { "allele": "G", "end": 523, "endIntronDirection": "+", "endIntronOffset": 28654, "referenceAllele": "A", "start": 523, "startIntronDirection": "+", "startIntronOffset": 28653 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145280.4:c.-11+28654A>G" ], "proteinEffect": { "hgvs": "NP_001138752.1:n.-11+28654A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS712786" }, { "coordinates": [ { "allele": "G", "end": 64, "endIntronDirection": "+", "endIntronOffset": 29113, "referenceAllele": "A", "start": 64, "startIntronDirection": "+", "startIntronOffset": 29112 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145281.3:c.47+29113A>G" ], "proteinEffect": { "hgvs": "NP_001138753.1:n.47+29113A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS712787" }, { "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145285.3:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138757.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138757.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712788" }, { "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001145286.3:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001138758.1:p.Asp43Gly", "hgvsWellDefined": "NP_001138758.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712789" }, { "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008156", "geneNCBI_id": 4988, "geneSymbol": "OPRM1", "hgvs": [ "NM_001285523.3:c.128A>G" ], "proteinEffect": { "hgvs": "NP_001272452.1:p.Asp43Gly", "hgvsWellDefined": "NP_001272452.1:p.Asp43Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS716099" } ], "type": "nucleotide" }