{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581093",
  "communityStandardTitle": [
    "NM_002529.4(NTRK1):c.1729G= (p.Gly577=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964866",
        "rs": 121964866
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156876496,
          "referenceAllele": "G",
          "start": 156876495
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156876496G=",
        "CM000663.2:g.156876496G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156846288,
          "referenceAllele": "G",
          "start": 156846287
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156846288G=",
        "CM000663.1:g.156846288G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 155112912,
          "referenceAllele": "G",
          "start": 155112911
        }
      ],
      "hgvs": [
        "NC_000001.9:g.155112912G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 65747,
          "referenceAllele": "G",
          "start": 65746
        }
      ],
      "hgvs": [
        "NG_007493.1:g.65747G=",
        "LRG_261:g.65747G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000615"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.2:c.1549G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:p.Gly517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "G",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.7:c.1549G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.3:p.Gly517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.7:c.*321G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.2:n.*321G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "G",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000524377.7:c.1729G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431418.1:p.Gly577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524377.7:c.1729G="
          },
          "RefSeq": {
            "hgvs": "NM_002529.4:c.1729G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431418.1:p.Gly577="
          },
          "RefSeq": {
            "hgvs": "NP_002520.2:p.Gly577="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.1:c.1549G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:p.Gly517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000358660.3:c.1720G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351486.3:p.Gly574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1831,
          "referenceAllele": "G",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000368196.7:c.1711G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357179.3:p.Gly571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "G",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.6:c.1621G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.2:p.Gly541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.6:c.*321G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.1:n.*321G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000524377.5:c.1729G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431418.1:p.Gly577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000530298.5:n.2182G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825289354",
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001007792.1:c.1621G=",
        "LRG_261t1:c.1621G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007793.1:p.Gly541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825309349",
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "G",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001012331.1:c.1711G=",
        "LRG_261t2:c.1711G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001012331.1:p.Gly571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829378287",
      "coordinates": [
        {
          "allele": "G",
          "end": 1785,
          "referenceAllele": "G",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_002529.3:c.1729G=",
        "LRG_261t3:c.1729G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002520.2:p.Gly577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825309349",
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001012331.2:c.1711G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001012331.1:p.Gly571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829378287",
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "G",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_002529.4:c.1729G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002520.2:p.Gly577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524377.7:c.1729G="
          },
          "RefSeq": {
            "hgvs": "NM_002529.4:c.1729G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431418.1:p.Gly577="
          },
          "RefSeq": {
            "hgvs": "NP_002520.2:p.Gly577="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}