{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1979318304",
  "communityStandardTitle": [
    "NM_006747.4(SIPA1):c.985-391G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2448490",
        "rs": 2448490
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 65644564,
          "referenceAllele": "G",
          "start": 65644563
        }
      ],
      "hgvs": [
        "NC_000011.10:g.65644564G>T",
        "CM000673.2:g.65644564G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 65412035,
          "referenceAllele": "G",
          "start": 65412034
        }
      ],
      "hgvs": [
        "NC_000011.9:g.65412035G>T",
        "CM000673.1:g.65412035G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 65168611,
          "referenceAllele": "G",
          "start": 65168610
        }
      ],
      "hgvs": [
        "NC_000011.8:g.65168611G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1157,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "ENST00000534313.6:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436269.1:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534313.6:c.985-391G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006747.4:c.985-391G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436269.1:n.985-391G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006738.3:n.985-391G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1280,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "ENST00000394224.3:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377771.3:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "ENST00000394227.7:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377774.4:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1231,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "ENST00000527525.5:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433686.1:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1161,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "ENST00000534313.5:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436269.1:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "ENST00000628801.2:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485899.1:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1151,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "NM_006747.3:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006738.3:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1280,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "NM_153253.29:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694985.29:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1225,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "XM_005274189.2:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274246.1:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1191,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "XM_011545214.1:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543516.1:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1093,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "XR_247210.2:n.1094-391G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1093,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "XR_950017.1:n.1094-391G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1157,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "NM_006747.4:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006738.3:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667602",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534313.6:c.985-391G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006747.4:c.985-391G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436269.1:n.985-391G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006738.3:n.985-391G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 1280,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010885",
      "geneNCBI_id": 6494,
      "geneSymbol": "SIPA1",
      "hgvs": [
        "NM_153253.30:c.985-391G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694985.29:n.985-391G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729459"
    }
  ],
  "type": "nucleotide"
}