{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118632",
  "communityStandardTitle": [
    "NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3997844",
        "active": true,
        "id": "COSM3997844"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22138[alleleid]",
        "alleleId": 22138,
        "preferredName": "NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7099",
        "RCV": [
          "RCV000007517",
          "RCV000007516",
          "RCV000177328",
          "RCV000269750",
          "RCV000324769",
          "RCV001705584",
          "RCV001512340",
          "RCV002490331"
        ],
        "variationId": 7099
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-13152400-T-A",
        "id": "10-13152400-T-A",
        "variant": "10:13152400 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13152400T>A?assembly=hg19",
        "id": "chr10:g.13152400T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13110400T>A?assembly=hg38",
        "id": "chr10:g.13110400T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11258194",
        "rs": 11258194
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13152400-T-A?dataset=gnomad_r2_1",
        "id": "10-13152400-T-A",
        "variant": "10:13152400 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13110400-T-A?dataset=gnomad_r3",
        "id": "10-13110400-T-A",
        "variant": "10:13110400 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13110400-T-A?dataset=gnomad_r4",
        "id": "10-13110400-T-A",
        "variant": "10:13110400 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 13110400,
          "referenceAllele": "T",
          "start": 13110399
        }
      ],
      "hgvs": [
        "NC_000010.11:g.13110400T>A",
        "CM000672.2:g.13110400T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 13152400,
          "referenceAllele": "T",
          "start": 13152399
        }
      ],
      "hgvs": [
        "NC_000010.10:g.13152400T>A",
        "CM000672.1:g.13152400T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 13192406,
          "referenceAllele": "T",
          "start": 13192405
        }
      ],
      "hgvs": [
        "NC_000010.9:g.13192406T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15319,
          "referenceAllele": "T",
          "start": 15318
        }
      ],
      "hgvs": [
        "NG_012876.1:g.15319T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "T",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.8:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000368021.3:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.293T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.293T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Met98Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Met98Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "T",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000263036.9:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263036.3:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000263036.3:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "T",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.7:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000368021.3:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378748.7:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368022.3:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000368022.3:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "T",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378752.7:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368027.3:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000368027.3:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378757.6:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368032.2:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000368032.2:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "T",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378764.6:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368040.1:p.Met98Lys",
        "hgvsWellDefined": "ENSP00000368040.1:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "T",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000430081.5:c.*198T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414747.2:n.*198T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 1112,
          "referenceAllele": "T",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000482140.5:c.166+1112T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484961.1:n.166+1112T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118633",
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "T",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008211.1:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008212.1:p.Met98Lys",
        "hgvsWellDefined": "NP_001008212.1:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290243",
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "T",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.1:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Met98Lys",
        "hgvsWellDefined": "NP_001008213.1:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290497",
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "T",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008213.1:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008214.1:p.Met98Lys",
        "hgvsWellDefined": "NP_001008214.1:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118634",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "T",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_021980.4:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068815.2:p.Met98Lys",
        "hgvsWellDefined": "NP_068815.2:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "T",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252336.2:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252393.2:p.Met98Lys",
        "hgvsWellDefined": "XP_005252393.2:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 697,
          "referenceAllele": "T",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252337.3:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252394.2:p.Met98Lys",
        "hgvsWellDefined": "XP_005252394.2:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "T",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252338.2:c.122T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252395.2:p.Met41Lys",
        "hgvsWellDefined": "XP_005252395.2:p.Met41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290243",
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "T",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.2:c.293T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Met98Lys",
        "hgvsWellDefined": "NP_001008213.1:p.Met98Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.293T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.293T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Met98Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Met98Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}