{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7452898",
  "communityStandardTitle": [
    "NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=770069[alleleid]",
        "alleleId": 770069,
        "preferredName": "NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/761862",
        "RCV": [
          "RCV000939945",
          "RCV001116913"
        ],
        "variationId": 761862
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-31359282-T-A",
        "id": "15-31359282-T-A",
        "variant": "15:31359282 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31359282T>A?assembly=hg19",
        "id": "chr15:g.31359282T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31067079T>A?assembly=hg38",
        "id": "chr15:g.31067079T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761283836",
        "rs": 761283836
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31359282-T-A?dataset=gnomad_r2_1",
        "id": "15-31359282-T-A",
        "variant": "15:31359282 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31067079-T-A?dataset=gnomad_r3",
        "id": "15-31067079-T-A",
        "variant": "15:31067079 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31067079-T-A?dataset=gnomad_r4",
        "id": "15-31067079-T-A",
        "variant": "15:31067079 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 31067079,
          "referenceAllele": "T",
          "start": 31067078
        }
      ],
      "hgvs": [
        "NC_000015.10:g.31067079T>A",
        "CM000677.2:g.31067079T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 31359282,
          "referenceAllele": "T",
          "start": 31359281
        }
      ],
      "hgvs": [
        "NC_000015.9:g.31359282T>A",
        "CM000677.1:g.31359282T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 29146574,
          "referenceAllele": "T",
          "start": 29146573
        }
      ],
      "hgvs": [
        "NC_000015.8:g.29146574T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39643,
          "referenceAllele": "A",
          "start": 39642
        }
      ],
      "hgvs": [
        "NG_016453.1:g.39643A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99195,
          "referenceAllele": "A",
          "start": 99194
        }
      ],
      "hgvs": [
        "NG_016453.2:g.99195A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "A",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000711434.1:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518752.1:p.Asp179Val",
        "hgvsWellDefined": "ENSP00000518752.1:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "A",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.7:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:p.Asp179Val",
        "hgvsWellDefined": "ENSP00000380897.2:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.6:c.653A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.2:p.Asp218Val",
        "hgvsWellDefined": "ENSP00000452946.2:p.Asp218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "+",
          "endIntronOffset": 800,
          "referenceAllele": "A",
          "start": 544,
          "startIntronDirection": "+",
          "startIntronOffset": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.6:c.544+800A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.2:n.544+800A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.11:c.602A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.7:p.Asp201Val",
        "hgvsWellDefined": "ENSP00000256552.7:p.Asp201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.602A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.602A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:p.Asp201Val"
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:p.Asp201Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.10:c.602A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.6:p.Asp201Val",
        "hgvsWellDefined": "ENSP00000256552.6:p.Asp201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "A",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.6:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:p.Asp179Val",
        "hgvsWellDefined": "ENSP00000380897.2:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000542188.5:c.653A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437849.1:p.Asp218Val",
        "hgvsWellDefined": "ENSP00000437849.1:p.Asp218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.5:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.1:p.Asp179Val",
        "hgvsWellDefined": "ENSP00000452946.1:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "A",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558768.5:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453119.2:p.Asp108Val",
        "hgvsWellDefined": "ENSP00000453119.2:p.Asp108Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "endIntronDirection": "+",
          "endIntronOffset": 800,
          "referenceAllele": "A",
          "start": 539,
          "startIntronDirection": "+",
          "startIntronOffset": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.5:c.427+800A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.1:n.427+800A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "A",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000560658.5:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454077.1:p.Asp179Val",
        "hgvsWellDefined": "ENSP00000454077.1:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "A",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000560801.5:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453644.2:p.Asp108Val",
        "hgvsWellDefined": "ENSP00000453644.2:p.Asp108Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008256",
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.1:c.653A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:p.Asp218Val",
        "hgvsWellDefined": "NP_001238949.1:p.Asp218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826346354",
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "A",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.1:c.602A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:p.Asp201Val",
        "hgvsWellDefined": "NP_001238953.1:p.Asp201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354034",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.5:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:p.Asp179Val",
        "hgvsWellDefined": "NP_002411.3:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826346354",
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.2:c.602A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:p.Asp201Val",
        "hgvsWellDefined": "NP_001238953.1:p.Asp201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.602A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.602A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:p.Asp201Val"
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:p.Asp201Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354034",
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "A",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.6:c.536A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:p.Asp179Val",
        "hgvsWellDefined": "NP_002411.3:p.Asp179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008256",
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.2:c.653A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:p.Asp218Val",
        "hgvsWellDefined": "NP_001238949.1:p.Asp218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714610"
    }
  ],
  "type": "nucleotide"
}