{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1013587458",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.11038+11T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=920141[alleleid]",
        "alleleId": 920141,
        "preferredName": "NM_000081.4(LYST):c.11038+11T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/931634",
        "RCV": [
          "RCV001198419"
        ],
        "variationId": 931634
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1659440744",
        "rs": 1659440744
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235677080-A-G?dataset=gnomad_r3",
        "id": "1-235677080-A-G",
        "variant": "1:235677080 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235677080-A-G?dataset=gnomad_r4",
        "id": "1-235677080-A-G",
        "variant": "1:235677080 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235677080,
          "referenceAllele": "A",
          "start": 235677079
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235677080A>G",
        "CM000663.2:g.235677080A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235840380,
          "referenceAllele": "A",
          "start": 235840379
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235840380A>G",
        "CM000663.1:g.235840380A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 233907003,
          "referenceAllele": "A",
          "start": 233907002
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233907003A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211561,
          "referenceAllele": "T",
          "start": 211560
        }
      ],
      "hgvs": [
        "NG_007397.1:g.211561T>C",
        "LRG_143:g.211561T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2448,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 2448,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000462376.2:n.2448+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11656,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11656,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*7024+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*7024+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1588,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1588,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697235.1:c.1588+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513202.1:n.1588+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4502,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 4502,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.4502+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:n.4502+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697237.1:c.1749+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 432,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697239.1:n.432+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3172,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 3172,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.3172+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:n.3172+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11199,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11199,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.11038+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:n.11038+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.11038+11T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.11038+11T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.11038+11T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.11038+11T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11213,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11213,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.11038+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:n.11038+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10790,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 10790,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*6462+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*6462+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6028,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 6028,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.6028+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11220,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11220,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.11038+11T>C",
        "LRG_143t1:c.11038+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.11038+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11657,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11657,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.11038+11T>C",
        "LRG_143t2:c.11038+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:n.11038+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11382,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11382,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.11200+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:n.11200+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11785,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11785,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.11200+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:n.11200+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11583,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11583,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.11200+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:n.11200+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11244,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11244,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.11062+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:n.11062+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9027,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 9027,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.8863+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:n.8863+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11532,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11532,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.11200+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:n.11200+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9036,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 9036,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.8863+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:n.8863+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11151,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11151,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.10969+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:n.10969+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11199,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 11199,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.11038+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.11038+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.11038+11T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.11038+11T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.11038+11T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.11038+11T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}