{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10649206",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.*623G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=344423[alleleid]",
        "alleleId": 344423,
        "preferredName": "NM_002230.4(JUP):c.*623G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323152",
        "RCV": [
          "RCV000335635",
          "RCV000396423",
          "RCV001785565"
        ],
        "variationId": 323152
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39911373C>T?assembly=hg19",
        "id": "chr17:g.39911373C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41755121C>T?assembly=hg38",
        "id": "chr17:g.41755121C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55634776",
        "rs": 55634776
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39911373-C-T?dataset=gnomad_r2_1",
        "id": "17-39911373-C-T",
        "variant": "17:39911373 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41755121-C-T?dataset=gnomad_r3",
        "id": "17-41755121-C-T",
        "variant": "17:41755121 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41755121-C-T?dataset=gnomad_r4",
        "id": "17-41755121-C-T",
        "variant": "17:41755121 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41755121,
          "referenceAllele": "C",
          "start": 41755120
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41755121C>T",
        "CM000679.2:g.41755121C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39911373,
          "referenceAllele": "C",
          "start": 39911372
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39911373C>T",
        "CM000679.1:g.39911373C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 37164899,
          "referenceAllele": "C",
          "start": 37164898
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37164899C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36592,
          "referenceAllele": "G",
          "start": 36591
        }
      ],
      "hgvs": [
        "NG_009090.2:g.36592G>A",
        "LRG_401:g.36592G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.*623G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.*623G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:n.*623G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:n.*623G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2683,
          "referenceAllele": "G",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2781,
          "referenceAllele": "G",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2980,
          "referenceAllele": "G",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2994,
          "referenceAllele": "G",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.*623G>A",
        "LRG_401t2:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2697,
          "referenceAllele": "G",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.*326G>A",
        "LRG_401t1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2988,
          "referenceAllele": "G",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2692,
          "referenceAllele": "G",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2590,
          "referenceAllele": "G",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "referenceAllele": "G",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "referenceAllele": "G",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3072,
          "referenceAllele": "G",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2750,
          "referenceAllele": "G",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2772,
          "referenceAllele": "G",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2862,
          "referenceAllele": "G",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2765,
          "referenceAllele": "G",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3050,
          "referenceAllele": "G",
          "start": 3049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "referenceAllele": "G",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2983,
          "referenceAllele": "G",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2680,
          "referenceAllele": "G",
          "start": 2679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "referenceAllele": "G",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.*623G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.*623G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:n.*623G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:n.*623G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3015,
          "referenceAllele": "G",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2693,
          "referenceAllele": "G",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2646,
          "referenceAllele": "G",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2696,
          "referenceAllele": "G",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}