{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1755206",
  "communityStandardTitle": [
    "NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1675297[alleleid]",
        "alleleId": 1675297,
        "preferredName": "NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1683399",
        "RCV": [
          "RCV002240128",
          "RCV003365714"
        ],
        "variationId": 1683399
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-89028844-C-T",
        "id": "2-89028844-C-T",
        "variant": "2:89028844 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.89028844C>T?assembly=hg19",
        "id": "chr2:g.89028844C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88729326C>T?assembly=hg38",
        "id": "chr2:g.88729326C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760452079",
        "rs": 760452079
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-89028844-C-T?dataset=gnomad_r2_1",
        "id": "2-89028844-C-T",
        "variant": "2:89028844 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88729326-C-T?dataset=gnomad_r4",
        "id": "2-88729326-C-T",
        "variant": "2:88729326 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88729326,
          "referenceAllele": "C",
          "start": 88729325
        }
      ],
      "hgvs": [
        "NC_000002.12:g.88729326C>T",
        "CM000664.2:g.88729326C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 89028844,
          "referenceAllele": "C",
          "start": 89028843
        }
      ],
      "hgvs": [
        "NC_000002.11:g.89028844C>T",
        "CM000664.1:g.89028844C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88809959,
          "referenceAllele": "C",
          "start": 88809958
        }
      ],
      "hgvs": [
        "NC_000002.10:g.88809959C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42669,
          "referenceAllele": "C",
          "start": 42668
        }
      ],
      "hgvs": [
        "NG_016710.1:g.42669C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010297",
      "geneNCBI_id": 22934,
      "geneSymbol": "RPIA",
      "hgvs": [
        "ENST00000283646.5:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283646.3:p.Arg151Ter",
        "hgvsWellDefined": "ENSP00000283646.3:p.Arg151_Cys311delinsHisProGluIleAspLeuAlaIleAspGlyAlaAspGluValAspAlaAspLeuAsnLeuIleLysGlyGlyGlyGlyCysLeuThrGlnGluLysIleValAlaGlyTyrAlaSerArgPheIleValIleAlaAspPheArgLysAspSerLysAsnLeuGlyAspGlnTrpHisLysGlyIleProIleGluValIleProMetAlaTyrValProValSerArgAlaValSerGlnLysPheGlyGlyValValGluLeuArgMetAlaValAsnLysAlaGlyProValValThrAspAsnGlyAsnPheIleLeuAspTrpLysPheAspArgValHisLysTrpSerGluValAsnThrAlaIleLysMetIleProGlyValValAspThrGlyLeuPheIleAsnMetAlaGluArgValTyrPheGlyMetGlnAspGlySerValAsnMetArgGluLysProPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000283646.5:c.451C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144563.3:c.451C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000283646.3:p.Arg151Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653164.2:p.Arg151Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010297",
      "geneNCBI_id": 22934,
      "geneSymbol": "RPIA",
      "hgvs": [
        "ENST00000283646.4:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283646.3:p.Arg151Ter",
        "hgvsWellDefined": "ENSP00000283646.3:p.Arg151_Cys311delinsHisProGluIleAspLeuAlaIleAspGlyAlaAspGluValAspAlaAspLeuAsnLeuIleLysGlyGlyGlyGlyCysLeuThrGlnGluLysIleValAlaGlyTyrAlaSerArgPheIleValIleAlaAspPheArgLysAspSerLysAsnLeuGlyAspGlnTrpHisLysGlyIleProIleGluValIleProMetAlaTyrValProValSerArgAlaValSerGlnLysPheGlyGlyValValGluLeuArgMetAlaValAsnLysAlaGlyProValValThrAspAsnGlyAsnPheIleLeuAspTrpLysPheAspArgValHisLysTrpSerGluValAsnThrAlaIleLysMetIleProGlyValValAspThrGlyLeuPheIleAsnMetAlaGluArgValTyrPheGlyMetGlnAspGlySerValAsnMetArgGluLysProPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573303228",
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010297",
      "geneNCBI_id": 22934,
      "geneSymbol": "RPIA",
      "hgvs": [
        "NM_144563.2:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653164.2:p.Arg151Ter",
        "hgvsWellDefined": "NP_653164.2:p.Arg151_Cys311delinsHisProGluIleAspLeuAlaIleAspGlyAlaAspGluValAspAlaAspLeuAsnLeuIleLysGlyGlyGlyGlyCysLeuThrGlnGluLysIleValAlaGlyTyrAlaSerArgPheIleValIleAlaAspPheArgLysAspSerLysAsnLeuGlyAspGlnTrpHisLysGlyIleProIleGluValIleProMetAlaTyrValProValSerArgAlaValSerGlnLysPheGlyGlyValValGluLeuArgMetAlaValAsnLysAlaGlyProValValThrAspAsnGlyAsnPheIleLeuAspTrpLysPheAspArgValHisLysTrpSerGluValAsnThrAlaIleLysMetIleProGlyValValAspThrGlyLeuPheIleAsnMetAlaGluArgValTyrPheGlyMetGlnAspGlySerValAsnMetArgGluLysProPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010297",
      "geneNCBI_id": 22934,
      "geneSymbol": "RPIA",
      "hgvs": [
        "XR_939673.1:n.502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573303228",
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010297",
      "geneNCBI_id": 22934,
      "geneSymbol": "RPIA",
      "hgvs": [
        "NM_144563.3:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653164.2:p.Arg151Ter",
        "hgvsWellDefined": "NP_653164.2:p.Arg151_Cys311delinsHisProGluIleAspLeuAlaIleAspGlyAlaAspGluValAspAlaAspLeuAsnLeuIleLysGlyGlyGlyGlyCysLeuThrGlnGluLysIleValAlaGlyTyrAlaSerArgPheIleValIleAlaAspPheArgLysAspSerLysAsnLeuGlyAspGlnTrpHisLysGlyIleProIleGluValIleProMetAlaTyrValProValSerArgAlaValSerGlnLysPheGlyGlyValValGluLeuArgMetAlaValAsnLysAlaGlyProValValThrAspAsnGlyAsnPheIleLeuAspTrpLysPheAspArgValHisLysTrpSerGluValAsnThrAlaIleLysMetIleProGlyValValAspThrGlyLeuPheIleAsnMetAlaGluArgValTyrPheGlyMetGlnAspGlySerValAsnMetArgGluLysProPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672019",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000283646.5:c.451C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144563.3:c.451C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000283646.3:p.Arg151Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653164.2:p.Arg151Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}