{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344955062",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.5214+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2983790[alleleid]",
        "alleleId": 2983790,
        "preferredName": "NM_000081.4(LYST):c.5214+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2829124",
        "RCV": [
          "RCV003637355"
        ],
        "variationId": 2829124
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235944164C>G?assembly=hg19",
        "id": "chr1:g.235944164C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235780864C>G?assembly=hg38",
        "id": "chr1:g.235780864C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1669798610",
        "rs": 1669798610
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235780864,
          "referenceAllele": "C",
          "start": 235780863
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235780864C>G",
        "CM000663.2:g.235780864C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235944164,
          "referenceAllele": "C",
          "start": 235944163
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235944164C>G",
        "CM000663.1:g.235944164C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 234010787,
          "referenceAllele": "C",
          "start": 234010786
        }
      ],
      "hgvs": [
        "NC_000001.9:g.234010787C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107777,
          "referenceAllele": "G",
          "start": 107776
        }
      ],
      "hgvs": [
        "NG_007397.1:g.107777G>C",
        "LRG_143:g.107777G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5270,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*638+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*638+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5375,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5375,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.5214+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.5214+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.5214+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.5214+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5389,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5389,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4966,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4966,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*638+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*638+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5765,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5765,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000489585.5:n.5765+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.5214+1G>C",
        "LRG_143t1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5833,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5833,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.5214+1G>C",
        "LRG_143t2:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5799,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5799,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5597,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5597,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3041,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3041,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.2877+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:n.2877+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544038.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542340.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544040.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542342.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5546,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5546,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.2:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3050,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3050,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.2877+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:n.2877+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.2:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.2:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000151.1:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855640.1:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736946.2:n.5396+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.5396+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736948.1:n.5396+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_002959252.1:n.5396+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5375,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5375,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.5214+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.5214+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.5214+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.5214+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.5214+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.5214+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}