{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259598",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15439[alleleid]",
        "alleleId": 15439,
        "preferredName": "NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/400",
        "RCV": [
          "RCV000022405",
          "RCV000636941",
          "RCV000735369",
          "RCV001267543",
          "RCV001550720",
          "RCV002265543",
          "RCV004532266"
        ],
        "variationId": 400
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-139327634-G-A",
        "id": "9-139327634-G-A",
        "variant": "9:139327634 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139327634G>A?assembly=hg19",
        "id": "chr9:g.139327634G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136433182G>A?assembly=hg38",
        "id": "chr9:g.136433182G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918130",
        "rs": 121918130
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-139327634-G-A?dataset=gnomad_r2_1",
        "id": "9-139327634-G-A",
        "variant": "9:139327634 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136433182-G-A?dataset=gnomad_r3",
        "id": "9-136433182-G-A",
        "variant": "9:136433182 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136433182-G-A?dataset=gnomad_r4",
        "id": "9-136433182-G-A",
        "variant": "9:136433182 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 136433182,
          "referenceAllele": "G",
          "start": 136433181
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136433182G>A",
        "CM000671.2:g.136433182G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 139327634,
          "referenceAllele": "G",
          "start": 139327633
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139327634G>A",
        "CM000671.1:g.139327634G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 138447455,
          "referenceAllele": "G",
          "start": 138447454
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138447455G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11623,
          "referenceAllele": "C",
          "start": 11622
        }
      ],
      "hgvs": [
        "NG_016126.1:g.11623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Arg378Cys",
        "hgvsWellDefined": "ENSP00000360777.3:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1132C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1132C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Arg378Cys"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Arg378Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1460,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.1035-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:n.1035-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Arg378Cys",
        "hgvsWellDefined": "ENSP00000360777.3:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104584",
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Arg378Cys",
        "hgvsWellDefined": "NP_063945.2:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Arg378Cys",
        "hgvsWellDefined": "XP_005266151.1:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.1:n.1572C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992525",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Arg378Cys",
        "hgvsWellDefined": "NP_001305431.1:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104584",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Arg378Cys",
        "hgvsWellDefined": "NP_063945.2:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Arg378Cys",
        "hgvsWellDefined": "XP_016870415.1:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.1574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104584",
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Arg378Cys",
        "hgvsWellDefined": "NP_063945.2:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1132C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1132C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Arg378Cys"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Arg378Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992525",
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Arg378Cys",
        "hgvsWellDefined": "NP_001305431.1:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}