{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA39754720",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.11229A>G (p.Arg3743=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863931[alleleid]",
        "alleleId": 863931,
        "preferredName": "NM_000081.4(LYST):c.11229A>G (p.Arg3743=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873776",
        "RCV": [
          "RCV001096201",
          "RCV003898087"
        ],
        "variationId": 873776
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235827322T>C?assembly=hg19",
        "id": "chr1:g.235827322T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235664022T>C?assembly=hg38",
        "id": "chr1:g.235664022T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368618083",
        "rs": 368618083
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235827322-T-C?dataset=gnomad_r2_1",
        "id": "1-235827322-T-C",
        "variant": "1:235827322 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235664022-T-C?dataset=gnomad_r4",
        "id": "1-235664022-T-C",
        "variant": "1:235664022 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235664022,
          "referenceAllele": "T",
          "start": 235664021
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235664022T>C",
        "CM000663.2:g.235664022T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235827322,
          "referenceAllele": "T",
          "start": 235827321
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235827322T>C",
        "CM000663.1:g.235827322T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 233893945,
          "referenceAllele": "T",
          "start": 233893944
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233893945T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224619,
          "referenceAllele": "A",
          "start": 224618
        }
      ],
      "hgvs": [
        "NG_007397.1:g.224619A>G",
        "LRG_143:g.224619A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3048,
          "referenceAllele": "A",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000462376.2:n.3048A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11847,
          "referenceAllele": "A",
          "start": 11846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*7215A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*7215A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1779,
          "referenceAllele": "A",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697235.1:c.1779A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513202.1:p.Arg593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4693,
          "referenceAllele": "A",
          "start": 4692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.4693A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:n.4693A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "A",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697237.1:c.1940A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "A",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697238.1:n.383A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "referenceAllele": "A",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697239.1:n.623A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3296,
          "referenceAllele": "A",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.3296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:n.3296A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11390,
          "referenceAllele": "A",
          "start": 11389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.11229A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Arg3743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.11229A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.11229A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Arg3743="
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Arg3743="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11404,
          "referenceAllele": "A",
          "start": 11403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.11229A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Arg3743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10981,
          "referenceAllele": "A",
          "start": 10980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*6653A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*6653A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6219,
          "referenceAllele": "A",
          "start": 6218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.6219A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050726",
      "coordinates": [
        {
          "allele": "G",
          "end": 11411,
          "referenceAllele": "A",
          "start": 11410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.11229A>G",
        "LRG_143t1:c.11229A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Arg3743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826863999",
      "coordinates": [
        {
          "allele": "G",
          "end": 11848,
          "referenceAllele": "A",
          "start": 11847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.11229A>G",
        "LRG_143t2:c.11229A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Arg3743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11573,
          "referenceAllele": "A",
          "start": 11572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.11391A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Arg3797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11976,
          "referenceAllele": "A",
          "start": 11975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.11391A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Arg3797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11774,
          "referenceAllele": "A",
          "start": 11773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.11391A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Arg3797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11435,
          "referenceAllele": "A",
          "start": 11434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.11253A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Arg3751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9218,
          "referenceAllele": "A",
          "start": 9217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.9054A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Arg3018="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11723,
          "referenceAllele": "A",
          "start": 11722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.11391A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Arg3797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9227,
          "referenceAllele": "A",
          "start": 9226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.9054A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Arg3018="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11342,
          "referenceAllele": "A",
          "start": 11341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.11160A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Arg3720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050726",
      "coordinates": [
        {
          "allele": "G",
          "end": 11390,
          "referenceAllele": "A",
          "start": 11389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.11229A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Arg3743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.11229A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.11229A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Arg3743="
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Arg3743="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}