{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279366",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214303[alleleid]",
        "alleleId": 214303,
        "preferredName": "NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217659",
        "RCV": [
          "RCV000201546",
          "RCV002229127"
        ],
        "variationId": 217659
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139327612C>T?assembly=hg19",
        "id": "chr9:g.139327612C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136433160C>T?assembly=hg38",
        "id": "chr9:g.136433160C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225200",
        "rs": 863225200
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136433160-C-T?dataset=gnomad_r4",
        "id": "9-136433160-C-T",
        "variant": "9:136433160 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 136433160,
          "referenceAllele": "C",
          "start": 136433159
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136433160C>T",
        "CM000671.2:g.136433160C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 139327612,
          "referenceAllele": "C",
          "start": 139327611
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139327612C>T",
        "CM000671.1:g.139327612C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 138447433,
          "referenceAllele": "C",
          "start": 138447432
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138447433C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11645,
          "referenceAllele": "G",
          "start": 11644
        }
      ],
      "hgvs": [
        "NG_016126.1:g.11645G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Cys385Tyr",
        "hgvsWellDefined": "ENSP00000360777.3:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1154G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1154G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Cys385Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Cys385Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.1052G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:p.Cys351Tyr",
        "hgvsWellDefined": "ENSP00000501984.1:p.Cys351Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Cys385Tyr",
        "hgvsWellDefined": "ENSP00000360777.3:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279367",
      "coordinates": [
        {
          "allele": "A",
          "end": 1539,
          "referenceAllele": "G",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Cys385Tyr",
        "hgvsWellDefined": "NP_063945.2:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "G",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Cys385Tyr",
        "hgvsWellDefined": "XP_005266151.1:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "G",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.1:n.1594G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992529",
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Cys385Tyr",
        "hgvsWellDefined": "NP_001305431.1:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279367",
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Cys385Tyr",
        "hgvsWellDefined": "NP_063945.2:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "G",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Cys385Tyr",
        "hgvsWellDefined": "XP_016870415.1:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "G",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.1596G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279367",
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Cys385Tyr",
        "hgvsWellDefined": "NP_063945.2:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1154G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1154G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Cys385Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Cys385Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992529",
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.1154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Cys385Tyr",
        "hgvsWellDefined": "NP_001305431.1:p.Cys385Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}