{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9928422",
  "communityStandardTitle": [
    "NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615617[alleleid]",
        "alleleId": 615617,
        "preferredName": "NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627037",
        "RCV": [
          "RCV000851740",
          "RCV001838133",
          "RCV003989599"
        ],
        "variationId": 627037
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-57598607-C-T",
        "id": "20-57598607-C-T",
        "variant": "20:57598607 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.57598607C>T?assembly=hg19",
        "id": "chr20:g.57598607C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.59023552C>T?assembly=hg38",
        "id": "chr20:g.59023552C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767380935",
        "rs": 767380935
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-57598607-C-T?dataset=gnomad_r2_1",
        "id": "20-57598607-C-T",
        "variant": "20:57598607 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-59023552-C-T?dataset=gnomad_r3",
        "id": "20-59023552-C-T",
        "variant": "20:59023552 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-59023552-C-T?dataset=gnomad_r4",
        "id": "20-59023552-C-T",
        "variant": "20:59023552 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 59023552,
          "referenceAllele": "C",
          "start": 59023551
        }
      ],
      "hgvs": [
        "NC_000020.11:g.59023552C>T",
        "CM000682.2:g.59023552C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 57598607,
          "referenceAllele": "C",
          "start": 57598606
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57598607C>T",
        "CM000682.1:g.57598607C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 57032002,
          "referenceAllele": "C",
          "start": 57032001
        }
      ],
      "hgvs": [
        "NC_000020.9:g.57032002C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9299,
          "referenceAllele": "C",
          "start": 9298
        }
      ],
      "hgvs": [
        "NG_023424.2:g.9299C>T",
        "LRG_581:g.9299C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016257",
      "geneNCBI_id": 81027,
      "geneSymbol": "TUBB1",
      "hgvs": [
        "ENST00000217133.2:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217133.1:p.Arg77Ter",
        "hgvsWellDefined": "ENSP00000217133.1:p.Arg77_His451delinsSerSerLysLeuGlyAlaLeuPheGlnProAspSerPheValHisGlyAsnSerGlyAlaGlyAsnAsnTrpAlaLysGlyHisTyrThrGluGlyAlaGluLeuIleGluAsnValLeuGluValValArgHisGluSerGluSerCysAspCysLeuGlnGlyPheGlnIleValHisSerLeuGlyGlyGlyThrGlySerGlyMetGlyThrLeuLeuMetAsnLysIleArgGluGluTyrProAspArgIleMetAsnSerPheSerValMetProSerProLysValSerAspThrValValGluProTyrAsnAlaValLeuSerIleHisGlnLeuIleGluAsnAlaAspAlaCysPheCysIleAspAsnGluAlaLeuTyrAspIleCysPheArgThrLeuLysLeuThrThrProThrTyrGlyAspLeuAsnHisLeuValSerLeuThrMetSerGlyIleThrThrSerLeuArgPheProGlyGlnLeuAsnAlaAspLeuArgLysLeuAlaValAsnMetValProPheProArgLeuHisPhePheMetProGlyPheAlaProLeuThrAlaGlnGlySerGlnGlnTyrArgAlaLeuSerValAlaGluLeuThrGlnGlnMetPheAspAlaArgAsnThrMetAlaAlaCysAspLeuArgArgGlyArgTyrLeuThrValAlaCysIlePheArgGlyLysMetSerThrLysGluValAspGlnGlnLeuLeuSerValGlnThrArgAsnSerSerCysPheValGluTrpIleProAsnAsnValLysValAlaValCysAspIleProProArgGlyLeuSerMetAlaAlaThrPheIleGlyAsnAsnThrAlaIleGlnGluIlePheAsnArgValSerGluHisPheSerAlaMetPheLysArgLysAlaPheValHisTrpTyrThrSerGluGlyMetAspIleAsnGluPheGlyGluAlaGluAsnAsnIleHisAspLeuValSerGluTyrGlnGlnPheGlnAspAlaLysAlaValLeuGluGluAspGluGluValThrGluGluAlaGluMetGluProGluAspLysGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740352",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217133.2:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030773.4:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217133.1:p.Arg77Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110400.1:p.Arg77Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016257",
      "geneNCBI_id": 81027,
      "geneSymbol": "TUBB1",
      "hgvs": [
        "ENST00000217133.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217133.1:p.Arg77Ter",
        "hgvsWellDefined": "ENSP00000217133.1:p.Arg77_His451delinsSerSerLysLeuGlyAlaLeuPheGlnProAspSerPheValHisGlyAsnSerGlyAlaGlyAsnAsnTrpAlaLysGlyHisTyrThrGluGlyAlaGluLeuIleGluAsnValLeuGluValValArgHisGluSerGluSerCysAspCysLeuGlnGlyPheGlnIleValHisSerLeuGlyGlyGlyThrGlySerGlyMetGlyThrLeuLeuMetAsnLysIleArgGluGluTyrProAspArgIleMetAsnSerPheSerValMetProSerProLysValSerAspThrValValGluProTyrAsnAlaValLeuSerIleHisGlnLeuIleGluAsnAlaAspAlaCysPheCysIleAspAsnGluAlaLeuTyrAspIleCysPheArgThrLeuLysLeuThrThrProThrTyrGlyAspLeuAsnHisLeuValSerLeuThrMetSerGlyIleThrThrSerLeuArgPheProGlyGlnLeuAsnAlaAspLeuArgLysLeuAlaValAsnMetValProPheProArgLeuHisPhePheMetProGlyPheAlaProLeuThrAlaGlnGlySerGlnGlnTyrArgAlaLeuSerValAlaGluLeuThrGlnGlnMetPheAspAlaArgAsnThrMetAlaAlaCysAspLeuArgArgGlyArgTyrLeuThrValAlaCysIlePheArgGlyLysMetSerThrLysGluValAspGlnGlnLeuLeuSerValGlnThrArgAsnSerSerCysPheValGluTrpIleProAsnAsnValLysValAlaValCysAspIleProProArgGlyLeuSerMetAlaAlaThrPheIleGlyAsnAsnThrAlaIleGlnGluIlePheAsnArgValSerGluHisPheSerAlaMetPheLysArgLysAlaPheValHisTrpTyrThrSerGluGlyMetAspIleAsnGluPheGlyGluAlaGluAsnAsnIleHisAspLeuValSerGluTyrGlnGlnPheGlnAspAlaLysAlaValLeuGluGluAspGluGluValThrGluGluAlaGluMetGluProGluAspLysGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057420",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016257",
      "geneNCBI_id": 81027,
      "geneSymbol": "TUBB1",
      "hgvs": [
        "NM_030773.3:c.229C>T",
        "LRG_581t1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110400.1:p.Arg77Ter",
        "hgvsWellDefined": "NP_110400.1:p.Arg77_His451delinsSerSerLysLeuGlyAlaLeuPheGlnProAspSerPheValHisGlyAsnSerGlyAlaGlyAsnAsnTrpAlaLysGlyHisTyrThrGluGlyAlaGluLeuIleGluAsnValLeuGluValValArgHisGluSerGluSerCysAspCysLeuGlnGlyPheGlnIleValHisSerLeuGlyGlyGlyThrGlySerGlyMetGlyThrLeuLeuMetAsnLysIleArgGluGluTyrProAspArgIleMetAsnSerPheSerValMetProSerProLysValSerAspThrValValGluProTyrAsnAlaValLeuSerIleHisGlnLeuIleGluAsnAlaAspAlaCysPheCysIleAspAsnGluAlaLeuTyrAspIleCysPheArgThrLeuLysLeuThrThrProThrTyrGlyAspLeuAsnHisLeuValSerLeuThrMetSerGlyIleThrThrSerLeuArgPheProGlyGlnLeuAsnAlaAspLeuArgLysLeuAlaValAsnMetValProPheProArgLeuHisPhePheMetProGlyPheAlaProLeuThrAlaGlnGlySerGlnGlnTyrArgAlaLeuSerValAlaGluLeuThrGlnGlnMetPheAspAlaArgAsnThrMetAlaAlaCysAspLeuArgArgGlyArgTyrLeuThrValAlaCysIlePheArgGlyLysMetSerThrLysGluValAspGlnGlnLeuLeuSerValGlnThrArgAsnSerSerCysPheValGluTrpIleProAsnAsnValLysValAlaValCysAspIleProProArgGlyLeuSerMetAlaAlaThrPheIleGlyAsnAsnThrAlaIleGlnGluIlePheAsnArgValSerGluHisPheSerAlaMetPheLysArgLysAlaPheValHisTrpTyrThrSerGluGlyMetAspIleAsnGluPheGlyGluAlaGluAsnAsnIleHisAspLeuValSerGluTyrGlnGlnPheGlnAspAlaLysAlaValLeuGluGluAspGluGluValThrGluGluAlaGluMetGluProGluAspLysGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016257",
      "geneNCBI_id": 81027,
      "geneSymbol": "TUBB1",
      "hgvs": [
        "XM_017028085.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883574.1:p.Arg55Ter",
        "hgvsWellDefined": "XP_016883574.1:p.Arg55_His429delinsSerSerLysLeuGlyAlaLeuPheGlnProAspSerPheValHisGlyAsnSerGlyAlaGlyAsnAsnTrpAlaLysGlyHisTyrThrGluGlyAlaGluLeuIleGluAsnValLeuGluValValArgHisGluSerGluSerCysAspCysLeuGlnGlyPheGlnIleValHisSerLeuGlyGlyGlyThrGlySerGlyMetGlyThrLeuLeuMetAsnLysIleArgGluGluTyrProAspArgIleMetAsnSerPheSerValMetProSerProLysValSerAspThrValValGluProTyrAsnAlaValLeuSerIleHisGlnLeuIleGluAsnAlaAspAlaCysPheCysIleAspAsnGluAlaLeuTyrAspIleCysPheArgThrLeuLysLeuThrThrProThrTyrGlyAspLeuAsnHisLeuValSerLeuThrMetSerGlyIleThrThrSerLeuArgPheProGlyGlnLeuAsnAlaAspLeuArgLysLeuAlaValAsnMetValProPheProArgLeuHisPhePheMetProGlyPheAlaProLeuThrAlaGlnGlySerGlnGlnTyrArgAlaLeuSerValAlaGluLeuThrGlnGlnMetPheAspAlaArgAsnThrMetAlaAlaCysAspLeuArgArgGlyArgTyrLeuThrValAlaCysIlePheArgGlyLysMetSerThrLysGluValAspGlnGlnLeuLeuSerValGlnThrArgAsnSerSerCysPheValGluTrpIleProAsnAsnValLysValAlaValCysAspIleProProArgGlyLeuSerMetAlaAlaThrPheIleGlyAsnAsnThrAlaIleGlnGluIlePheAsnArgValSerGluHisPheSerAlaMetPheLysArgLysAlaPheValHisTrpTyrThrSerGluGlyMetAspIleAsnGluPheGlyGluAlaGluAsnAsnIleHisAspLeuValSerGluTyrGlnGlnPheGlnAspAlaLysAlaValLeuGluGluAspGluGluValThrGluGluAlaGluMetGluProGluAspLysGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057420",
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016257",
      "geneNCBI_id": 81027,
      "geneSymbol": "TUBB1",
      "hgvs": [
        "NM_030773.4:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110400.1:p.Arg77Ter",
        "hgvsWellDefined": "NP_110400.1:p.Arg77_His451delinsSerSerLysLeuGlyAlaLeuPheGlnProAspSerPheValHisGlyAsnSerGlyAlaGlyAsnAsnTrpAlaLysGlyHisTyrThrGluGlyAlaGluLeuIleGluAsnValLeuGluValValArgHisGluSerGluSerCysAspCysLeuGlnGlyPheGlnIleValHisSerLeuGlyGlyGlyThrGlySerGlyMetGlyThrLeuLeuMetAsnLysIleArgGluGluTyrProAspArgIleMetAsnSerPheSerValMetProSerProLysValSerAspThrValValGluProTyrAsnAlaValLeuSerIleHisGlnLeuIleGluAsnAlaAspAlaCysPheCysIleAspAsnGluAlaLeuTyrAspIleCysPheArgThrLeuLysLeuThrThrProThrTyrGlyAspLeuAsnHisLeuValSerLeuThrMetSerGlyIleThrThrSerLeuArgPheProGlyGlnLeuAsnAlaAspLeuArgLysLeuAlaValAsnMetValProPheProArgLeuHisPhePheMetProGlyPheAlaProLeuThrAlaGlnGlySerGlnGlnTyrArgAlaLeuSerValAlaGluLeuThrGlnGlnMetPheAspAlaArgAsnThrMetAlaAlaCysAspLeuArgArgGlyArgTyrLeuThrValAlaCysIlePheArgGlyLysMetSerThrLysGluValAspGlnGlnLeuLeuSerValGlnThrArgAsnSerSerCysPheValGluTrpIleProAsnAsnValLysValAlaValCysAspIleProProArgGlyLeuSerMetAlaAlaThrPheIleGlyAsnAsnThrAlaIleGlnGluIlePheAsnArgValSerGluHisPheSerAlaMetPheLysArgLysAlaPheValHisTrpTyrThrSerGluGlyMetAspIleAsnGluPheGlyGluAlaGluAsnAsnIleHisAspLeuValSerGluTyrGlnGlnPheGlnAspAlaLysAlaValLeuGluGluAspGluGluValThrGluGluAlaGluMetGluProGluAspLysGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217133.2:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030773.4:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217133.1:p.Arg77Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110400.1:p.Arg77Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}