{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344922059",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.10822A>T (p.Thr3608Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235840898T>A?assembly=hg19",
        "id": "chr1:g.235840898T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235677598T>A?assembly=hg38",
        "id": "chr1:g.235677598T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235677598,
          "referenceAllele": "T",
          "start": 235677597
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235677598T>A",
        "CM000663.2:g.235677598T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235840898,
          "referenceAllele": "T",
          "start": 235840897
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235840898T>A",
        "CM000663.1:g.235840898T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 233907521,
          "referenceAllele": "T",
          "start": 233907520
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233907521T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211043,
          "referenceAllele": "A",
          "start": 211042
        }
      ],
      "hgvs": [
        "NG_007397.1:g.211043A>T",
        "LRG_143:g.211043A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2232,
          "referenceAllele": "A",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000462376.2:n.2232A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11149,
          "referenceAllele": "A",
          "start": 11148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*6517A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*6517A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697235.1:c.1372A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513202.1:p.Thr458Ser",
        "hgvsWellDefined": "ENSP00000513202.1:p.Thr458Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4286,
          "referenceAllele": "A",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.4286A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:n.4286A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1533,
          "referenceAllele": "A",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697237.1:c.1533A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697239.1:n.216A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2956,
          "referenceAllele": "A",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.2956A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:p.Thr986Ser",
        "hgvsWellDefined": "ENSP00000513205.1:p.Thr986Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10983,
          "referenceAllele": "A",
          "start": 10982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.10822A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Thr3608Ser",
        "hgvsWellDefined": "ENSP00000374443.2:p.Thr3608Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.10822A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.10822A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Thr3608Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Thr3608Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10997,
          "referenceAllele": "A",
          "start": 10996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.10822A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Thr3608Ser",
        "hgvsWellDefined": "ENSP00000374443.2:p.Thr3608Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10574,
          "referenceAllele": "A",
          "start": 10573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*6246A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*6246A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5812,
          "referenceAllele": "A",
          "start": 5811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.5812A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050652",
      "coordinates": [
        {
          "allele": "T",
          "end": 11004,
          "referenceAllele": "A",
          "start": 11003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.10822A>T",
        "LRG_143t1:c.10822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Thr3608Ser",
        "hgvsWellDefined": "NP_000072.2:p.Thr3608Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573195307",
      "coordinates": [
        {
          "allele": "T",
          "end": 11441,
          "referenceAllele": "A",
          "start": 11440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.10822A>T",
        "LRG_143t2:c.10822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Thr3608Ser",
        "hgvsWellDefined": "NP_001288294.1:p.Thr3608Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11166,
          "referenceAllele": "A",
          "start": 11165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.10984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Thr3662Ser",
        "hgvsWellDefined": "XP_011542333.1:p.Thr3662Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11569,
          "referenceAllele": "A",
          "start": 11568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.10984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Thr3662Ser",
        "hgvsWellDefined": "XP_011542334.1:p.Thr3662Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11367,
          "referenceAllele": "A",
          "start": 11366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.10984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Thr3662Ser",
        "hgvsWellDefined": "XP_011542335.1:p.Thr3662Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11028,
          "referenceAllele": "A",
          "start": 11027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.10846A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Thr3616Ser",
        "hgvsWellDefined": "XP_011542336.1:p.Thr3616Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8811,
          "referenceAllele": "A",
          "start": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.8647A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Thr2883Ser",
        "hgvsWellDefined": "XP_011542338.1:p.Thr2883Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11316,
          "referenceAllele": "A",
          "start": 11315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.10984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Thr3662Ser",
        "hgvsWellDefined": "XP_011542335.1:p.Thr3662Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8820,
          "referenceAllele": "A",
          "start": 8819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.8647A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Thr2883Ser",
        "hgvsWellDefined": "XP_011542338.1:p.Thr2883Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10935,
          "referenceAllele": "A",
          "start": 10934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.10753A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Thr3585Ser",
        "hgvsWellDefined": "XP_016855639.1:p.Thr3585Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050652",
      "coordinates": [
        {
          "allele": "T",
          "end": 10983,
          "referenceAllele": "A",
          "start": 10982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.10822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Thr3608Ser",
        "hgvsWellDefined": "NP_000072.2:p.Thr3608Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.10822A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.10822A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Thr3608Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Thr3608Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}