{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339987351",
  "communityStandardTitle": [
    "NM_005373.3(MPL):c.1473G>T (p.Trp491Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43814938G>T?assembly=hg19",
        "id": "chr1:g.43814938G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43349267G>T?assembly=hg38",
        "id": "chr1:g.43349267G>T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43349267-G-T?dataset=gnomad_r4",
        "id": "1-43349267-G-T",
        "variant": "1:43349267 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43349267,
          "referenceAllele": "G",
          "start": 43349266
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43349267G>T",
        "CM000663.2:g.43349267G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43814938,
          "referenceAllele": "G",
          "start": 43814937
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43814938G>T",
        "CM000663.1:g.43814938G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43587525,
          "referenceAllele": "G",
          "start": 43587524
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43587525G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16464,
          "referenceAllele": "G",
          "start": 16463
        }
      ],
      "hgvs": [
        "NG_007525.1:g.16464G>T",
        "LRG_510:g.16464G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000633"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.9:c.1473G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Trp491Cys",
        "hgvsWellDefined": "ENSP00000361548.3:p.Trp491Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.1473G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.1473G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Trp491Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Trp491Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.7:c.1452G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.3:p.Trp484Cys",
        "hgvsWellDefined": "ENSP00000414004.3:p.Trp484Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000638732.1:n.1473G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5,
          "referenceAllele": "G",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000643351.1:c.5G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.7:c.1473G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Trp491Cys",
        "hgvsWellDefined": "ENSP00000361548.3:p.Trp491Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.6:c.1473G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.2:p.Trp491Cys",
        "hgvsWellDefined": "ENSP00000414004.2:p.Trp491Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000612993.1:c.1473G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480273.1:p.Trp491Cys",
        "hgvsWellDefined": "ENSP00000480273.1:p.Trp491Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891850728",
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "G",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.2:c.1473G>T",
        "LRG_510t1:c.1473G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Trp491Cys",
        "hgvsWellDefined": "NP_005364.1:p.Trp491Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "G",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_011541478.1:c.1452G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539780.1:p.Trp484Cys",
        "hgvsWellDefined": "XP_011539780.1:p.Trp484Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_017001320.1:c.1644G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856809.1:p.Trp548Cys",
        "hgvsWellDefined": "XP_016856809.1:p.Trp548Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891850728",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.3:c.1473G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Trp491Cys",
        "hgvsWellDefined": "NP_005364.1:p.Trp491Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.1473G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.1473G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Trp491Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Trp491Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}