{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394740566",
  "communityStandardTitle": [
    "NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5655781",
        "active": true,
        "id": "COSM5655781"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1109080[alleleid]",
        "alleleId": 1109080,
        "preferredName": "NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1120219",
        "RCV": [
          "RCV001449968",
          "RCV001526868"
        ],
        "variationId": 1120219
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.11349144G>C?assembly=hg19",
        "id": "chr16:g.11349144G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.11255287G>C?assembly=hg38",
        "id": "chr16:g.11255287G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2141125120",
        "rs": 2141125120
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 11255287,
          "referenceAllele": "G",
          "start": 11255286
        }
      ],
      "hgvs": [
        "NC_000016.10:g.11255287G>C",
        "CM000678.2:g.11255287G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 11349144,
          "referenceAllele": "G",
          "start": 11349143
        }
      ],
      "hgvs": [
        "NC_000016.9:g.11349144G>C",
        "CM000678.1:g.11349144G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 11256645,
          "referenceAllele": "G",
          "start": 11256644
        }
      ],
      "hgvs": [
        "NC_000016.8:g.11256645G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019383",
      "geneNCBI_id": 8651,
      "geneSymbol": "SOCS1",
      "hgvs": [
        "ENST00000332029.4:c.192C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329418.2:p.Tyr64Ter",
        "hgvsWellDefined": "ENSP00000329418.2:p.Tyr64_Ile211delinsArgArgIleThrArgAlaSerAlaLeuLeuAspAlaCysGlyPheTyrTrpGlyProLeuSerValHisGlyAlaHisGluArgLeuArgAlaGluProValGlyThrPheLeuValArgAspSerArgGlnArgAsnCysPhePheAlaLeuSerValLysMetAlaSerGlyProThrSerIleArgValHisPheGlnAlaGlyArgPheHisLeuAspGlySerArgGluSerPheAspCysLeuPheGluLeuLeuGluHisTyrValAlaAlaProArgArgMetLeuGlyAlaProLeuArgGlnArgArgValArgProLeuGlnGluLeuCysArgGlnArgIleValAlaThrValGlyArgGluAsnLeuAlaArgIleProLeuAsnProValLeuArgAspTyrLeuSerSerPheProPheGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332029.4:c.192C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003745.2:c.192C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329418.2:p.Tyr64Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003736.1:p.Tyr64Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019383",
      "geneNCBI_id": 8651,
      "geneSymbol": "SOCS1",
      "hgvs": [
        "ENST00000332029.3:c.192C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329418.2:p.Tyr64Ter",
        "hgvsWellDefined": "ENSP00000329418.2:p.Tyr64_Ile211delinsArgArgIleThrArgAlaSerAlaLeuLeuAspAlaCysGlyPheTyrTrpGlyProLeuSerValHisGlyAlaHisGluArgLeuArgAlaGluProValGlyThrPheLeuValArgAspSerArgGlnArgAsnCysPhePheAlaLeuSerValLysMetAlaSerGlyProThrSerIleArgValHisPheGlnAlaGlyArgPheHisLeuAspGlySerArgGluSerPheAspCysLeuPheGluLeuLeuGluHisTyrValAlaAlaProArgArgMetLeuGlyAlaProLeuArgGlnArgArgValArgProLeuGlnGluLeuCysArgGlnArgIleValAlaThrValGlyArgGluAsnLeuAlaArgIleProLeuAsnProValLeuArgAspTyrLeuSerSerPheProPheGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019383",
      "geneNCBI_id": 8651,
      "geneSymbol": "SOCS1",
      "hgvs": [
        "ENST00000644787.1:c.192C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496577.1:p.Tyr64Ter",
        "hgvsWellDefined": "ENSP00000496577.1:p.Tyr64_Ile211delinsArgArgIleThrArgAlaSerAlaLeuLeuAspAlaCysGlyPheTyrTrpGlyProLeuSerValHisGlyAlaHisGluArgLeuArgAlaGluProValGlyThrPheLeuValArgAspSerArgGlnArgAsnCysPhePheAlaLeuSerValLysMetAlaSerGlyProThrSerIleArgValHisPheGlnAlaGlyArgPheHisLeuAspGlySerArgGluSerPheAspCysLeuPheGluLeuLeuGluHisTyrValAlaAlaProArgArgMetLeuGlyAlaProLeuArgGlnArgArgValArgProLeuGlnGluLeuCysArgGlnArgIleValAlaThrValGlyArgGluAsnLeuAlaArgIleProLeuAsnProValLeuArgAspTyrLeuSerSerPheProPheGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "endIntronDirection": "+",
          "endIntronOffset": 5509,
          "referenceAllele": "G",
          "start": 152,
          "startIntronDirection": "+",
          "startIntronOffset": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028349",
      "geneNCBI_id": 116028,
      "geneSymbol": "RMI2",
      "hgvs": [
        "ENST00000649869.1:n.152+5509G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019383",
      "geneNCBI_id": 8651,
      "geneSymbol": "SOCS1",
      "hgvs": [
        "ENST00000332029.2:c.192C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329418.2:p.Tyr64Ter",
        "hgvsWellDefined": "ENSP00000329418.2:p.Tyr64_Ile211delinsArgArgIleThrArgAlaSerAlaLeuLeuAspAlaCysGlyPheTyrTrpGlyProLeuSerValHisGlyAlaHisGluArgLeuArgAlaGluProValGlyThrPheLeuValArgAspSerArgGlnArgAsnCysPhePheAlaLeuSerValLysMetAlaSerGlyProThrSerIleArgValHisPheGlnAlaGlyArgPheHisLeuAspGlySerArgGluSerPheAspCysLeuPheGluLeuLeuGluHisTyrValAlaAlaProArgArgMetLeuGlyAlaProLeuArgGlnArgArgValArgProLeuGlnGluLeuCysArgGlnArgIleValAlaThrValGlyArgGluAsnLeuAlaArgIleProLeuAsnProValLeuArgAspTyrLeuSerSerPheProPheGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "endIntronDirection": "+",
          "endIntronOffset": 5509,
          "referenceAllele": "G",
          "start": 130,
          "startIntronDirection": "+",
          "startIntronOffset": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028349",
      "geneNCBI_id": 116028,
      "geneSymbol": "RMI2",
      "hgvs": [
        "ENST00000572173.1:c.-516+5509G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461206.1:n.-516+5509G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 160,
          "endIntronDirection": "+",
          "endIntronOffset": 5509,
          "referenceAllele": "G",
          "start": 160,
          "startIntronDirection": "+",
          "startIntronOffset": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028349",
      "geneNCBI_id": 116028,
      "geneSymbol": "RMI2",
      "hgvs": [
        "ENST00000573910.1:n.160+5509G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499264666",
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019383",
      "geneNCBI_id": 8651,
      "geneSymbol": "SOCS1",
      "hgvs": [
        "NM_003745.1:c.192C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003736.1:p.Tyr64Ter",
        "hgvsWellDefined": "NP_003736.1:p.Tyr64_Ile211delinsArgArgIleThrArgAlaSerAlaLeuLeuAspAlaCysGlyPheTyrTrpGlyProLeuSerValHisGlyAlaHisGluArgLeuArgAlaGluProValGlyThrPheLeuValArgAspSerArgGlnArgAsnCysPhePheAlaLeuSerValLysMetAlaSerGlyProThrSerIleArgValHisPheGlnAlaGlyArgPheHisLeuAspGlySerArgGluSerPheAspCysLeuPheGluLeuLeuGluHisTyrValAlaAlaProArgArgMetLeuGlyAlaProLeuArgGlnArgArgValArgProLeuGlnGluLeuCysArgGlnArgIleValAlaThrValGlyArgGluAsnLeuAlaArgIleProLeuAsnProValLeuArgAspTyrLeuSerSerPheProPheGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "endIntronDirection": "+",
          "endIntronOffset": 5509,
          "referenceAllele": "G",
          "start": 733,
          "startIntronDirection": "+",
          "startIntronOffset": 5508
        }
      ],
      "hgvs": [
        "XR_933070.1:n.733+5509G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 5509,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 5508
        }
      ],
      "hgvs": [
        "XR_933070.3:n.876+5509G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499264666",
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019383",
      "geneNCBI_id": 8651,
      "geneSymbol": "SOCS1",
      "hgvs": [
        "NM_003745.2:c.192C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003736.1:p.Tyr64Ter",
        "hgvsWellDefined": "NP_003736.1:p.Tyr64_Ile211delinsArgArgIleThrArgAlaSerAlaLeuLeuAspAlaCysGlyPheTyrTrpGlyProLeuSerValHisGlyAlaHisGluArgLeuArgAlaGluProValGlyThrPheLeuValArgAspSerArgGlnArgAsnCysPhePheAlaLeuSerValLysMetAlaSerGlyProThrSerIleArgValHisPheGlnAlaGlyArgPheHisLeuAspGlySerArgGluSerPheAspCysLeuPheGluLeuLeuGluHisTyrValAlaAlaProArgArgMetLeuGlyAlaProLeuArgGlnArgArgValArgProLeuGlnGluLeuCysArgGlnArgIleValAlaThrValGlyArgGluAsnLeuAlaArgIleProLeuAsnProValLeuArgAspTyrLeuSerSerPheProPheGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332029.4:c.192C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003745.2:c.192C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329418.2:p.Tyr64Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003736.1:p.Tyr64Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}