{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1465358",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=279909[alleleid]",
        "alleleId": 279909,
        "preferredName": "NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/296355",
        "RCV": [
          "RCV000262603",
          "RCV002520467"
        ],
        "variationId": 296355
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-235860470-A-G",
        "id": "1-235860470-A-G",
        "variant": "1:235860470 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235860470A>G?assembly=hg19",
        "id": "chr1:g.235860470A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235697170A>G?assembly=hg38",
        "id": "chr1:g.235697170A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200511787",
        "rs": 200511787
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235860470-A-G?dataset=gnomad_r2_1",
        "id": "1-235860470-A-G",
        "variant": "1:235860470 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235697170-A-G?dataset=gnomad_r3",
        "id": "1-235697170-A-G",
        "variant": "1:235697170 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235697170-A-G?dataset=gnomad_r4",
        "id": "1-235697170-A-G",
        "variant": "1:235697170 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235697170,
          "referenceAllele": "A",
          "start": 235697169
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235697170A>G",
        "CM000663.2:g.235697170A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235860470,
          "referenceAllele": "A",
          "start": 235860469
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235860470A>G",
        "CM000663.1:g.235860470A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 233927093,
          "referenceAllele": "A",
          "start": 233927092
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233927093A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191471,
          "referenceAllele": "T",
          "start": 191470
        }
      ],
      "hgvs": [
        "NG_007397.1:g.191471T>C",
        "LRG_143:g.191471T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000462376.2:n.1887T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10804,
          "referenceAllele": "T",
          "start": 10803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*6172T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*6172T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "referenceAllele": "T",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697179.1:n.3186T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "T",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697235.1:c.1027T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513202.1:p.Phe343Leu",
        "hgvsWellDefined": "ENSP00000513202.1:p.Phe343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3941,
          "referenceAllele": "T",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.3941T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:n.3941T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "T",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697237.1:c.1188T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2611,
          "referenceAllele": "T",
          "start": 2610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.2611T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:p.Phe871Leu",
        "hgvsWellDefined": "ENSP00000513205.1:p.Phe871Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10638,
          "referenceAllele": "T",
          "start": 10637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.10477T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Phe3493Leu",
        "hgvsWellDefined": "ENSP00000374443.2:p.Phe3493Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.10477T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.10477T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Phe3493Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Phe3493Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10652,
          "referenceAllele": "T",
          "start": 10651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.10477T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Phe3493Leu",
        "hgvsWellDefined": "ENSP00000374443.2:p.Phe3493Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10229,
          "referenceAllele": "T",
          "start": 10228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*5901T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*5901T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5467,
          "referenceAllele": "T",
          "start": 5466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.5467T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050561",
      "coordinates": [
        {
          "allele": "C",
          "end": 10659,
          "referenceAllele": "T",
          "start": 10658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.10477T>C",
        "LRG_143t1:c.10477T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Phe3493Leu",
        "hgvsWellDefined": "NP_000072.2:p.Phe3493Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447876",
      "coordinates": [
        {
          "allele": "C",
          "end": 11096,
          "referenceAllele": "T",
          "start": 11095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.10477T>C",
        "LRG_143t2:c.10477T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Phe3493Leu",
        "hgvsWellDefined": "NP_001288294.1:p.Phe3493Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10821,
          "referenceAllele": "T",
          "start": 10820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.10639T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Phe3547Leu",
        "hgvsWellDefined": "XP_011542333.1:p.Phe3547Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11224,
          "referenceAllele": "T",
          "start": 11223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.10639T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Phe3547Leu",
        "hgvsWellDefined": "XP_011542334.1:p.Phe3547Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11022,
          "referenceAllele": "T",
          "start": 11021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.10639T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Phe3547Leu",
        "hgvsWellDefined": "XP_011542335.1:p.Phe3547Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10683,
          "referenceAllele": "T",
          "start": 10682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.10501T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Phe3501Leu",
        "hgvsWellDefined": "XP_011542336.1:p.Phe3501Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8466,
          "referenceAllele": "T",
          "start": 8465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.8302T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Phe2768Leu",
        "hgvsWellDefined": "XP_011542338.1:p.Phe2768Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10971,
          "referenceAllele": "T",
          "start": 10970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.10639T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Phe3547Leu",
        "hgvsWellDefined": "XP_011542335.1:p.Phe3547Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8475,
          "referenceAllele": "T",
          "start": 8474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.8302T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Phe2768Leu",
        "hgvsWellDefined": "XP_011542338.1:p.Phe2768Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10590,
          "referenceAllele": "T",
          "start": 10589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.10408T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Phe3470Leu",
        "hgvsWellDefined": "XP_016855639.1:p.Phe3470Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050561",
      "coordinates": [
        {
          "allele": "C",
          "end": 10638,
          "referenceAllele": "T",
          "start": 10637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.10477T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Phe3493Leu",
        "hgvsWellDefined": "NP_000072.2:p.Phe3493Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.10477T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.10477T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Phe3493Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Phe3493Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}