{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344940750",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.9627+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3034978[alleleid]",
        "alleleId": 3034978,
        "preferredName": "NM_000081.4(LYST):c.9627+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2873104",
        "RCV": [
          "RCV003635622"
        ],
        "variationId": 2873104
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235880011C>T?assembly=hg19",
        "id": "chr1:g.235880011C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235716711C>T?assembly=hg38",
        "id": "chr1:g.235716711C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2527417596",
        "rs": 2527417596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235716711,
          "referenceAllele": "C",
          "start": 235716710
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235716711C>T",
        "CM000663.2:g.235716711C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235880011,
          "referenceAllele": "C",
          "start": 235880010
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235880011C>T",
        "CM000663.1:g.235880011C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 233946634,
          "referenceAllele": "C",
          "start": 233946633
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233946634C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171930,
          "referenceAllele": "G",
          "start": 171929
        }
      ],
      "hgvs": [
        "NG_007397.1:g.171930G>A",
        "LRG_143:g.171930G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5155,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5155,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000461526.2:c.5155+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513165.1:n.5155+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1722,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1722,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000475277.2:c.1722+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513164.1:n.1722+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9954,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9954,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*5322+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*5322+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697235.1:c.177+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513202.1:n.177+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3091,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.3091+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:n.3091+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 583,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 583,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697237.1:c.583+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1761,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.1761+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:n.1761+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4107,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4107,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697241.1:c.4107+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513206.1:n.4107+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9788,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9788,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.9627+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:n.9627+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.9627+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.9627+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.9627+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.9627+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9802,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9802,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.9627+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:n.9627+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9379,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9379,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*5051+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*5051+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.4617+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 493,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000475277.1:n.493+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9809,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9809,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.9627+1G>A",
        "LRG_143t1:c.9627+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.9627+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10246,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10246,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.9627+1G>A",
        "LRG_143t2:c.9627+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:n.9627+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9971,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9971,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10374,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10374,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10172,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10172,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9833,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9833,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.9651+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:n.9651+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9971,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9971,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.1:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7616,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7616,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.7452+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:n.7452+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10121,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10121,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9971,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9971,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.2:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.7452+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:n.7452+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9971,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9971,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.9789+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:n.9789+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10662,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10662,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.10662+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9788,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9788,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.9627+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.9627+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.9627+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.9627+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.9627+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.9627+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}