{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279520",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214301[alleleid]",
        "alleleId": 214301,
        "preferredName": "NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217664",
        "RCV": [
          "RCV000201740"
        ],
        "variationId": 217664
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139327438A>G?assembly=hg19",
        "id": "chr9:g.139327438A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136432986A>G?assembly=hg38",
        "id": "chr9:g.136432986A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225202",
        "rs": 863225202
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 136432986,
          "referenceAllele": "A",
          "start": 136432985
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136432986A>G",
        "CM000671.2:g.136432986A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 139327438,
          "referenceAllele": "A",
          "start": 139327437
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139327438A>G",
        "CM000671.1:g.139327438A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138447259,
          "referenceAllele": "A",
          "start": 138447258
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138447259A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11819,
          "referenceAllele": "T",
          "start": 11818
        }
      ],
      "hgvs": [
        "NG_016126.1:g.11819T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "T",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Ser417Pro",
        "hgvsWellDefined": "ENSP00000360777.3:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1249T>C"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1249T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Ser417Pro"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Ser417Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "T",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.1147T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:p.Ser383Pro",
        "hgvsWellDefined": "ENSP00000501984.1:p.Ser383Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Ser417Pro",
        "hgvsWellDefined": "ENSP00000360777.3:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279521",
      "coordinates": [
        {
          "allele": "C",
          "end": 1634,
          "referenceAllele": "T",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Ser417Pro",
        "hgvsWellDefined": "NP_063945.2:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Ser417Pro",
        "hgvsWellDefined": "XP_005266151.1:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.1:n.1689T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992551",
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Ser417Pro",
        "hgvsWellDefined": "NP_001305431.1:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279521",
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Ser417Pro",
        "hgvsWellDefined": "NP_063945.2:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "T",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Ser417Pro",
        "hgvsWellDefined": "XP_016870415.1:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "T",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.1691T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279521",
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "T",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Ser417Pro",
        "hgvsWellDefined": "NP_063945.2:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1249T>C"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1249T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Ser417Pro"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Ser417Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992551",
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "T",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.1249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Ser417Pro",
        "hgvsWellDefined": "NP_001305431.1:p.Ser417Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}