{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399653896",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=845355[alleleid]",
        "alleleId": 845355,
        "preferredName": "NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/841886",
        "RCV": [
          "RCV001044200"
        ],
        "variationId": 841886
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41059583C>G?assembly=hg19",
        "id": "chr17:g.41059583C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42907566C>G?assembly=hg38",
        "id": "chr17:g.42907566C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764401169",
        "rs": 764401169
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42907566,
          "referenceAllele": "C",
          "start": 42907565
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42907566C>G",
        "CM000679.2:g.42907566C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41059583,
          "referenceAllele": "C",
          "start": 41059582
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41059583C>G",
        "CM000679.1:g.41059583C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38313109,
          "referenceAllele": "C",
          "start": 38313108
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38313109C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11769,
          "referenceAllele": "C",
          "start": 11768
        }
      ],
      "hgvs": [
        "NG_011808.1:g.11769C>G",
        "LRG_147:g.11769C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Tyr128Ter",
        "hgvsWellDefined": "ENSP00000253801.1:p.Tyr128_Leu357delinsValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgCysLeuAsnValIleLeuTrpLeuGlyPheTrpAlaValGlnLeuAsnValCysLeuSerArgIleTyrLeuAlaAlaHisPheProHisGlnValValAlaGlyValLeuSerGlyIleAlaValAlaGluThrPheSerHisIleHisSerIleTyrAsnAlaSerLeuLysLysTyrPheLeuIleThrPhePheLeuPheSerPheAlaIleGlyPheTyrLeuLeuLeuLysGlyLeuGlyValAspLeuLeuTrpThrLeuGluLysAlaGlnArgTrpCysGluGlnProGluTrpValHisIleAspThrThrProPheAlaSerLeuLeuLysAsnLeuGlyThrLeuPheGlyLeuGlyLeuAlaLeuAsnSerSerMetTyrArgGluSerCysLysGlyLysLeuSerLysTrpLeuProPheArgLeuSerSerIleValAlaSerLeuValLeuLeuHisValPheAspSerLeuLysProProSerGlnValGluLeuValPheTyrValLeuSerPheCysLysSerAlaValValProLeuAlaSerValSerValIleProTyrCysLeuAlaGlnValLeuGlyGlnProHisLysLysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.384C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.384C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Tyr128Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Tyr128Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Tyr128Ter",
        "hgvsWellDefined": "ENSP00000253801.1:p.Tyr128_Leu357delinsValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgCysLeuAsnValIleLeuTrpLeuGlyPheTrpAlaValGlnLeuAsnValCysLeuSerArgIleTyrLeuAlaAlaHisPheProHisGlnValValAlaGlyValLeuSerGlyIleAlaValAlaGluThrPheSerHisIleHisSerIleTyrAsnAlaSerLeuLysLysTyrPheLeuIleThrPhePheLeuPheSerPheAlaIleGlyPheTyrLeuLeuLeuLysGlyLeuGlyValAspLeuLeuTrpThrLeuGluLysAlaGlnArgTrpCysGluGlnProGluTrpValHisIleAspThrThrProPheAlaSerLeuLeuLysAsnLeuGlyThrLeuPheGlyLeuGlyLeuAlaLeuAsnSerSerMetTyrArgGluSerCysLysGlyLysLeuSerLysTrpLeuProPheArgLeuSerSerIleValAlaSerLeuValLeuLeuHisValPheAspSerLeuLysProProSerGlnValGluLeuValPheTyrValLeuSerPheCysLysSerAlaValValProLeuAlaSerValSerValIleProTyrCysLeuAlaGlnValLeuGlyGlnProHisLysLysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:p.Tyr128Ter",
        "hgvsWellDefined": "ENSP00000466202.1:p.Tyr128_Leu163delinsValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgHisCysCysCysArgAsnPheGlnProHisProGlnHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "C",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.341-34C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:n.341-34C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679932",
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Tyr128Ter",
        "hgvsWellDefined": "NP_000142.2:p.Tyr128_Leu357delinsValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgCysLeuAsnValIleLeuTrpLeuGlyPheTrpAlaValGlnLeuAsnValCysLeuSerArgIleTyrLeuAlaAlaHisPheProHisGlnValValAlaGlyValLeuSerGlyIleAlaValAlaGluThrPheSerHisIleHisSerIleTyrAsnAlaSerLeuLysLysTyrPheLeuIleThrPhePheLeuPheSerPheAlaIleGlyPheTyrLeuLeuLeuLysGlyLeuGlyValAspLeuLeuTrpThrLeuGluLysAlaGlnArgTrpCysGluGlnProGluTrpValHisIleAspThrThrProPheAlaSerLeuLeuLysAsnLeuGlyThrLeuPheGlyLeuGlyLeuAlaLeuAsnSerSerMetTyrArgGluSerCysLysGlyLysLeuSerLysTrpLeuProPheArgLeuSerSerIleValAlaSerLeuValLeuLeuHisValPheAspSerLeuLysProProSerGlnValGluLeuValPheTyrValLeuSerPheCysLysSerAlaValValProLeuAlaSerValSerValIleProTyrCysLeuAlaGlnValLeuGlyGlnProHisLysLysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "C",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.341-34C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.341-34C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679932",
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Tyr128Ter",
        "hgvsWellDefined": "NP_000142.2:p.Tyr128_Leu357delinsValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgCysLeuAsnValIleLeuTrpLeuGlyPheTrpAlaValGlnLeuAsnValCysLeuSerArgIleTyrLeuAlaAlaHisPheProHisGlnValValAlaGlyValLeuSerGlyIleAlaValAlaGluThrPheSerHisIleHisSerIleTyrAsnAlaSerLeuLysLysTyrPheLeuIleThrPhePheLeuPheSerPheAlaIleGlyPheTyrLeuLeuLeuLysGlyLeuGlyValAspLeuLeuTrpThrLeuGluLysAlaGlnArgTrpCysGluGlnProGluTrpValHisIleAspThrThrProPheAlaSerLeuLeuLysAsnLeuGlyThrLeuPheGlyLeuGlyLeuAlaLeuAsnSerSerMetTyrArgGluSerCysLysGlyLysLeuSerLysTrpLeuProPheArgLeuSerSerIleValAlaSerLeuValLeuLeuHisValPheAspSerLeuLysProProSerGlnValGluLeuValPheTyrValLeuSerPheCysLysSerAlaValValProLeuAlaSerValSerValIleProTyrCysLeuAlaGlnValLeuGlyGlnProHisLysLysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.384C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.384C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Tyr128Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Tyr128Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "C",
          "start": 418,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.341-34C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.341-34C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}