{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA31116959",
  "communityStandardTitle": [
    "NM_002529.4(NTRK1):c.1354+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4023453",
        "active": true,
        "id": "COSM4023453"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4023454",
        "active": true,
        "id": "COSM4023454"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1313664[alleleid]",
        "alleleId": 1313664,
        "preferredName": "NM_002529.4(NTRK1):c.1354+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323379",
        "RCV": [
          "RCV001784762"
        ],
        "variationId": 1323379
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156844801G>A?assembly=hg19",
        "id": "chr1:g.156844801G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156875009G>A?assembly=hg38",
        "id": "chr1:g.156875009G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764771898",
        "rs": 764771898
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156844801-G-A?dataset=gnomad_r2_1",
        "id": "1-156844801-G-A",
        "variant": "1:156844801 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156875009-G-A?dataset=gnomad_r4",
        "id": "1-156875009-G-A",
        "variant": "1:156875009 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156875009,
          "referenceAllele": "G",
          "start": 156875008
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156875009G>A",
        "CM000663.2:g.156875009G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156844801,
          "referenceAllele": "G",
          "start": 156844800
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156844801G>A",
        "CM000663.1:g.156844801G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155111425,
          "referenceAllele": "G",
          "start": 155111424
        }
      ],
      "hgvs": [
        "NC_000001.9:g.155111425G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64260,
          "referenceAllele": "G",
          "start": 64259
        }
      ],
      "hgvs": [
        "NG_007493.1:g.64260G>A",
        "LRG_261:g.64260G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000615"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1580,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.2:c.1174+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:n.1174+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.7:c.1174+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.3:n.1174+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.7:c.1041+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.2:n.1041+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000524377.7:c.1354+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431418.1:n.1354+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524377.7:c.1354+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002529.4:c.1354+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431418.1:n.1354+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002520.2:n.1354+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1545,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1545,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.1:c.1174+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:n.1174+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1377,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000358660.3:c.1336+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351486.3:n.1336+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000368196.7:c.1336+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357179.3:n.1336+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.6:c.1246+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.2:n.1246+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.6:c.1113+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.1:n.1113+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1395,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1395,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000524377.5:c.1354+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431418.1:n.1354+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1394,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000530298.5:n.1394+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000534682.1:n.577+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001007792.1:c.1246+1G>A",
        "LRG_261t1:c.1246+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007793.1:n.1246+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1392,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001012331.1:c.1336+1G>A",
        "LRG_261t2:c.1336+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012331.1:n.1336+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1410,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_002529.3:c.1354+1G>A",
        "LRG_261t3:c.1354+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002520.2:n.1354+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001012331.2:c.1336+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012331.1:n.1336+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_002529.4:c.1354+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002520.2:n.1354+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524377.7:c.1354+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002529.4:c.1354+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431418.1:n.1354+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002520.2:n.1354+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}