{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7452293",
  "communityStandardTitle": [
    "NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2084470",
        "active": true,
        "id": "COSM2084470"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873187[alleleid]",
        "alleleId": 873187,
        "preferredName": "NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/886387",
        "RCV": [
          "RCV001118549",
          "RCV001407114"
        ],
        "variationId": 886387
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-31332468-G-A",
        "id": "15-31332468-G-A",
        "variant": "15:31332468 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31332468G>A?assembly=hg19",
        "id": "chr15:g.31332468G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31040265G>A?assembly=hg38",
        "id": "chr15:g.31040265G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370305789",
        "rs": 370305789
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31332468-G-A?dataset=gnomad_r2_1",
        "id": "15-31332468-G-A",
        "variant": "15:31332468 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31040265-G-A?dataset=gnomad_r3",
        "id": "15-31040265-G-A",
        "variant": "15:31040265 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31040265-G-A?dataset=gnomad_r4",
        "id": "15-31040265-G-A",
        "variant": "15:31040265 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 31040265,
          "referenceAllele": "G",
          "start": 31040264
        }
      ],
      "hgvs": [
        "NC_000015.10:g.31040265G>A",
        "CM000677.2:g.31040265G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 31332468,
          "referenceAllele": "G",
          "start": 31332467
        }
      ],
      "hgvs": [
        "NC_000015.9:g.31332468G>A",
        "CM000677.1:g.31332468G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 29119760,
          "referenceAllele": "G",
          "start": 29119759
        }
      ],
      "hgvs": [
        "NC_000015.8:g.29119760G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66457,
          "referenceAllele": "C",
          "start": 66456
        }
      ],
      "hgvs": [
        "NG_016453.1:g.66457C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126009,
          "referenceAllele": "C",
          "start": 126008
        }
      ],
      "hgvs": [
        "NG_016453.2:g.126009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000711434.1:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518752.1:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.7:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.6:c.2220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.2:p.Tyr740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 11788,
          "referenceAllele": "C",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 11789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.6:c.545-11789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.2:n.545-11789C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "C",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.11:c.2169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.7:p.Tyr723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.2169C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.2169C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:p.Tyr723="
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:p.Tyr723="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.10:c.2169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.6:p.Tyr723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.6:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "C",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000542188.5:c.2220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437849.1:p.Tyr740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "referenceAllele": "C",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.5:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.1:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1872,
          "referenceAllele": "C",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558768.5:c.1872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453119.2:p.Tyr624="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 11788,
          "referenceAllele": "C",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 11789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.5:c.428-11789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.1:n.428-11789C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "C",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000560801.5:c.1920C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453644.2:n.1920C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826345555",
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "C",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.1:c.2220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:p.Tyr740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826346725",
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "referenceAllele": "C",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.1:c.2169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:p.Tyr723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354641",
      "coordinates": [
        {
          "allele": "T",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.5:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826346725",
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "C",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.2:c.2169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:p.Tyr723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.2169C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.2169C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:p.Tyr723="
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:p.Tyr723="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354641",
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.6:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826345555",
      "coordinates": [
        {
          "allele": "T",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.2:c.2220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:p.Tyr740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714610"
    }
  ],
  "type": "nucleotide"
}