{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259595",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15436[alleleid]",
        "alleleId": 15436,
        "preferredName": "NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397",
        "RCV": [
          "RCV000022402",
          "RCV001851510"
        ],
        "variationId": 397
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-139326282-G-A",
        "id": "9-139326282-G-A",
        "variant": "9:139326282 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139326282G>A?assembly=hg19",
        "id": "chr9:g.139326282G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136431830G>A?assembly=hg38",
        "id": "chr9:g.136431830G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13297509",
        "rs": 13297509
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-139326282-G-A?dataset=gnomad_r2_1",
        "id": "9-139326282-G-A",
        "variant": "9:139326282 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136431830-G-A?dataset=gnomad_r3",
        "id": "9-136431830-G-A",
        "variant": "9:136431830 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136431830-G-A?dataset=gnomad_r4",
        "id": "9-136431830-G-A",
        "variant": "9:136431830 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 136431830,
          "referenceAllele": "G",
          "start": 136431829
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136431830G>A",
        "CM000671.2:g.136431830G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 139326282,
          "referenceAllele": "G",
          "start": 139326281
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139326282G>A",
        "CM000671.1:g.139326282G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 138446103,
          "referenceAllele": "G",
          "start": 138446102
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138446103G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12975,
          "referenceAllele": "C",
          "start": 12974
        }
      ],
      "hgvs": [
        "NG_016126.1:g.12975C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1969,
          "referenceAllele": "C",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Arg515Trp",
        "hgvsWellDefined": "ENSP00000360777.3:p.Arg515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1543C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1543C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Arg515Trp"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Arg515Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:p.Arg481Trp",
        "hgvsWellDefined": "ENSP00000501984.1:p.Arg481Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Arg515Trp",
        "hgvsWellDefined": "ENSP00000360777.3:p.Arg515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104613",
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Arg515Trp",
        "hgvsWellDefined": "NP_063945.2:p.Arg515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "C",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Arg514Trp",
        "hgvsWellDefined": "XP_005266151.1:p.Arg514Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992638",
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Arg514Trp",
        "hgvsWellDefined": "NP_001305431.1:p.Arg514Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104613",
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Arg515Trp",
        "hgvsWellDefined": "NP_063945.2:p.Arg515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Arg515Trp",
        "hgvsWellDefined": "XP_016870415.1:p.Arg515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.2148C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104613",
      "coordinates": [
        {
          "allele": "T",
          "end": 1969,
          "referenceAllele": "C",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Arg515Trp",
        "hgvsWellDefined": "NP_063945.2:p.Arg515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1543C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1543C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Arg515Trp"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Arg515Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992638",
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Arg514Trp",
        "hgvsWellDefined": "NP_001305431.1:p.Arg514Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}