{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1465250",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.10965G>C (p.Ala3655=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1654603[alleleid]",
        "alleleId": 1654603,
        "preferredName": "NM_000081.4(LYST):c.10965G>C (p.Ala3655=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1664434",
        "RCV": [
          "RCV002181740",
          "RCV002264478"
        ],
        "variationId": 1664434
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-235840464-C-G",
        "id": "1-235840464-C-G",
        "variant": "1:235840464 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235840464C>G?assembly=hg19",
        "id": "chr1:g.235840464C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235677164C>G?assembly=hg38",
        "id": "chr1:g.235677164C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762254542",
        "rs": 762254542
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235840464-C-G?dataset=gnomad_r2_1",
        "id": "1-235840464-C-G",
        "variant": "1:235840464 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235677164-C-G?dataset=gnomad_r3",
        "id": "1-235677164-C-G",
        "variant": "1:235677164 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235677164-C-G?dataset=gnomad_r4",
        "id": "1-235677164-C-G",
        "variant": "1:235677164 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235677164,
          "referenceAllele": "C",
          "start": 235677163
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235677164C>G",
        "CM000663.2:g.235677164C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235840464,
          "referenceAllele": "C",
          "start": 235840463
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235840464C>G",
        "CM000663.1:g.235840464C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 233907087,
          "referenceAllele": "C",
          "start": 233907086
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233907087C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211477,
          "referenceAllele": "G",
          "start": 211476
        }
      ],
      "hgvs": [
        "NG_007397.1:g.211477G>C",
        "LRG_143:g.211477G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "G",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000462376.2:n.2375G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11583,
          "referenceAllele": "G",
          "start": 11582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*6951G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*6951G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697235.1:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513202.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.4429G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:n.4429G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697237.1:c.1676G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697239.1:n.359G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3099,
          "referenceAllele": "G",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.3099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:p.Ala1033="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11126,
          "referenceAllele": "G",
          "start": 11125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.10965G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Ala3655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.10965G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.10965G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Ala3655="
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Ala3655="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11140,
          "referenceAllele": "G",
          "start": 11139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.10965G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Ala3655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10717,
          "referenceAllele": "G",
          "start": 10716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*6389G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*6389G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5955,
          "referenceAllele": "G",
          "start": 5954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.5955G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050679",
      "coordinates": [
        {
          "allele": "C",
          "end": 11147,
          "referenceAllele": "G",
          "start": 11146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.10965G>C",
        "LRG_143t1:c.10965G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Ala3655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826863850",
      "coordinates": [
        {
          "allele": "C",
          "end": 11584,
          "referenceAllele": "G",
          "start": 11583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.10965G>C",
        "LRG_143t2:c.10965G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Ala3655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11309,
          "referenceAllele": "G",
          "start": 11308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.11127G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Ala3709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11712,
          "referenceAllele": "G",
          "start": 11711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.11127G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Ala3709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11510,
          "referenceAllele": "G",
          "start": 11509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.11127G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Ala3709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11171,
          "referenceAllele": "G",
          "start": 11170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.10989G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Ala3663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8954,
          "referenceAllele": "G",
          "start": 8953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.8790G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Ala2930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11459,
          "referenceAllele": "G",
          "start": 11458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.11127G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Ala3709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8963,
          "referenceAllele": "G",
          "start": 8962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.8790G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Ala2930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11078,
          "referenceAllele": "G",
          "start": 11077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.10896G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Ala3632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050679",
      "coordinates": [
        {
          "allele": "C",
          "end": 11126,
          "referenceAllele": "G",
          "start": 11125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.10965G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Ala3655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.10965G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.10965G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Ala3655="
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Ala3655="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}