{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565053",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.1995C>T (p.Ser665=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=979289",
        "active": true,
        "id": "COSM979289"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338357[alleleid]",
        "alleleId": 338357,
        "preferredName": "NM_002230.4(JUP):c.1995C>T (p.Ser665=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323164",
        "RCV": [
          "RCV000268505",
          "RCV000316685",
          "RCV002056596",
          "RCV002418185",
          "RCV003940274"
        ],
        "variationId": 323164
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39913718-G-A",
        "id": "17-39913718-G-A",
        "variant": "17:39913718 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39913718G>A?assembly=hg19",
        "id": "chr17:g.39913718G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41757466G>A?assembly=hg38",
        "id": "chr17:g.41757466G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782094877",
        "rs": 782094877
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39913718-G-A?dataset=gnomad_r2_1",
        "id": "17-39913718-G-A",
        "variant": "17:39913718 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41757466-G-A?dataset=gnomad_r3",
        "id": "17-41757466-G-A",
        "variant": "17:41757466 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41757466-G-A?dataset=gnomad_r4",
        "id": "17-41757466-G-A",
        "variant": "17:41757466 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41757466,
          "referenceAllele": "G",
          "start": 41757465
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41757466G>A",
        "CM000679.2:g.41757466G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39913718,
          "referenceAllele": "G",
          "start": 39913717
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39913718G>A",
        "CM000679.1:g.39913718G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37167244,
          "referenceAllele": "G",
          "start": 37167243
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37167244G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34247,
          "referenceAllele": "C",
          "start": 34246
        }
      ],
      "hgvs": [
        "NG_009090.2:g.34247C>T",
        "LRG_401:g.34247C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1995C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1995C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ser665="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ser665="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "referenceAllele": "C",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829369237",
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.1995C>T",
        "LRG_401t2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991743",
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.1995C>T",
        "LRG_401t1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "C",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "C",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2419,
          "referenceAllele": "C",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "C",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2123,
          "referenceAllele": "C",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2021,
          "referenceAllele": "C",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678124",
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678992",
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "C",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679862",
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680730",
      "coordinates": [
        {
          "allele": "T",
          "end": 2293,
          "referenceAllele": "C",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681596",
      "coordinates": [
        {
          "allele": "T",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829369237",
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991743",
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.2046C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Ser682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829369237",
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1995C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1995C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ser665="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ser665="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678124",
      "coordinates": [
        {
          "allele": "T",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678992",
      "coordinates": [
        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679862",
      "coordinates": [
        {
          "allele": "T",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680730",
      "coordinates": [
        {
          "allele": "T",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681596",
      "coordinates": [
        {
          "allele": "T",
          "end": 2077,
          "referenceAllele": "C",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991743",
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}