{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1466117",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.7506A>G (p.Gln2502=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=249780[alleleid]",
        "alleleId": 249780,
        "preferredName": "NM_000081.4(LYST):c.7506A>G (p.Gln2502=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254939",
        "RCV": [
          "RCV000244233",
          "RCV000342045",
          "RCV002262872",
          "RCV001726072"
        ],
        "variationId": 254939
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-235915426-T-C",
        "id": "1-235915426-T-C",
        "variant": "1:235915426 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235915426T>C?assembly=hg19",
        "id": "chr1:g.235915426T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235752126T>C?assembly=hg38",
        "id": "chr1:g.235752126T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140434436",
        "rs": 140434436
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235915426-T-C?dataset=gnomad_r2_1",
        "id": "1-235915426-T-C",
        "variant": "1:235915426 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235752126-T-C?dataset=gnomad_r3",
        "id": "1-235752126-T-C",
        "variant": "1:235752126 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235752126-T-C?dataset=gnomad_r4",
        "id": "1-235752126-T-C",
        "variant": "1:235752126 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235752126,
          "referenceAllele": "T",
          "start": 235752125
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235752126T>C",
        "CM000663.2:g.235752126T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235915426,
          "referenceAllele": "T",
          "start": 235915425
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235915426T>C",
        "CM000663.1:g.235915426T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 233982049,
          "referenceAllele": "T",
          "start": 233982048
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233982049T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 136515,
          "referenceAllele": "A",
          "start": 136514
        }
      ],
      "hgvs": [
        "NG_007397.1:g.136515A>G",
        "LRG_143:g.136515A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2181,
          "referenceAllele": "A",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000461526.2:c.2181A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513165.1:p.Gln727="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7562,
          "referenceAllele": "A",
          "start": 7561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*2930A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*2930A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1215,
          "referenceAllele": "A",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.1215A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:p.Gln405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697241.1:c.1986A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513206.1:p.Gln662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7667,
          "referenceAllele": "A",
          "start": 7666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.7506A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.7506A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Gln2502="
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Gln2502="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7681,
          "referenceAllele": "A",
          "start": 7680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7258,
          "referenceAllele": "A",
          "start": 7257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*2930A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*2930A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46,
          "referenceAllele": "A",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000487530.2:c.46A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825049723",
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.7506A>G",
        "LRG_143t1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826862879",
      "coordinates": [
        {
          "allele": "G",
          "end": 8125,
          "referenceAllele": "A",
          "start": 8124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.7506A>G",
        "LRG_143t2:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8091,
          "referenceAllele": "A",
          "start": 8090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7889,
          "referenceAllele": "A",
          "start": 7888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7550,
          "referenceAllele": "A",
          "start": 7549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.7368A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Gln2456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5333,
          "referenceAllele": "A",
          "start": 5332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Gln1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544038.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542340.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7838,
          "referenceAllele": "A",
          "start": 7837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.2:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5342,
          "referenceAllele": "A",
          "start": 5341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Gln1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.2:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.2:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736946.2:n.7688A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7688,
          "referenceAllele": "A",
          "start": 7687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.7688A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7411,
          "endIntronDirection": "+",
          "endIntronOffset": 3352,
          "referenceAllele": "A",
          "start": 7411,
          "startIntronDirection": "+",
          "startIntronOffset": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736948.1:n.7411+3352A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825049723",
      "coordinates": [
        {
          "allele": "G",
          "end": 7667,
          "referenceAllele": "A",
          "start": 7666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.7506A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Gln2502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.7506A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.7506A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Gln2502="
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Gln2502="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}