{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1925728610",
  "communityStandardTitle": [
    "NM_004329.3(BMPR1A):c.1511G= (p.Trp504=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878854664",
        "rs": 878854664
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 86923631,
          "referenceAllele": "G",
          "start": 86923630
        }
      ],
      "hgvs": [
        "NC_000010.11:g.86923631G=",
        "CM000672.2:g.86923631G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 88683388,
          "referenceAllele": "G",
          "start": 88683387
        }
      ],
      "hgvs": [
        "NC_000010.10:g.88683388G=",
        "CM000672.1:g.88683388G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 88673368,
          "referenceAllele": "G",
          "start": 88673367
        }
      ],
      "hgvs": [
        "NC_000010.9:g.88673368G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171993,
          "referenceAllele": "G",
          "start": 171992
        }
      ],
      "hgvs": [
        "NG_009362.1:g.171993G=",
        "LRG_298:g.171993G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2153,
          "referenceAllele": "G",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000480152.3:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483569.2:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000635816.2:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489707.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "G",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000636056.2:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490273.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000372037.8:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361107.2:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.1511G="
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.1511G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Trp504="
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Trp504="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000635816.1:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489707.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000636056.1:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490273.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000638429.1:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492290.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000372037.7:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361107.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077028761",
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.2:c.1511G=",
        "LRG_298t1:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.1:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2123,
          "referenceAllele": "G",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.1:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.2:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2123,
          "referenceAllele": "G",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.2:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077028761",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.3:c.1511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Trp504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.1511G="
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.1511G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Trp504="
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Trp504="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}