{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7452513",
  "communityStandardTitle": [
    "NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338369[alleleid]",
        "alleleId": 338369,
        "preferredName": "NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315523",
        "RCV": [
          "RCV000285916",
          "RCV000905554"
        ],
        "variationId": 315523
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-31340113-C-T",
        "id": "15-31340113-C-T",
        "variant": "15:31340113 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31340113C>T?assembly=hg19",
        "id": "chr15:g.31340113C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31047910C>T?assembly=hg38",
        "id": "chr15:g.31047910C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368601558",
        "rs": 368601558
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31340113-C-T?dataset=gnomad_r2_1",
        "id": "15-31340113-C-T",
        "variant": "15:31340113 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31047910-C-T?dataset=gnomad_r3",
        "id": "15-31047910-C-T",
        "variant": "15:31047910 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31047910-C-T?dataset=gnomad_r4",
        "id": "15-31047910-C-T",
        "variant": "15:31047910 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 31047910,
          "referenceAllele": "C",
          "start": 31047909
        }
      ],
      "hgvs": [
        "NC_000015.10:g.31047910C>T",
        "CM000677.2:g.31047910C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 31340113,
          "referenceAllele": "C",
          "start": 31340112
        }
      ],
      "hgvs": [
        "NC_000015.9:g.31340113C>T",
        "CM000677.1:g.31340113C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 29127405,
          "referenceAllele": "C",
          "start": 29127404
        }
      ],
      "hgvs": [
        "NC_000015.8:g.29127405C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58812,
          "referenceAllele": "G",
          "start": 58811
        }
      ],
      "hgvs": [
        "NG_016453.1:g.58812G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118364,
          "referenceAllele": "G",
          "start": 118363
        }
      ],
      "hgvs": [
        "NG_016453.2:g.118364G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000711434.1:c.1536G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518752.1:p.Leu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.7:c.1536G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:p.Leu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.6:c.1653G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.2:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 19433,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 19434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.6:c.545-19434G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.2:n.545-19434G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.11:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.7:p.Leu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.1602G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.1602G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:p.Leu534="
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:p.Leu534="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.10:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.6:p.Leu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1650,
          "referenceAllele": "G",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.6:c.1536G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:p.Leu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000542188.5:c.1653G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437849.1:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.5:c.1536G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.1:p.Leu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558768.5:c.1305G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453119.2:p.Leu435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 19433,
          "referenceAllele": "G",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 19434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.5:c.428-19434G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.1:n.428-19434G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000560801.5:c.1353G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453644.2:n.1353G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826345404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.1:c.1653G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826346592",
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.1:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:p.Leu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354382",
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "G",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.5:c.1536G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:p.Leu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826346592",
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.2:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:p.Leu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.1602G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.1602G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:p.Leu534="
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:p.Leu534="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354382",
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.6:c.1536G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:p.Leu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826345404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.2:c.1653G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714610"
    }
  ],
  "type": "nucleotide"
}