{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1465729",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515575[alleleid]",
        "alleleId": 515575,
        "preferredName": "NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/525179",
        "RCV": [
          "RCV000629223",
          "RCV001027832",
          "RCV002263846",
          "RCV001821769",
          "RCV003928044"
        ],
        "variationId": 525179
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-235894366-A-C",
        "id": "1-235894366-A-C",
        "variant": "1:235894366 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235894366A>C?assembly=hg19",
        "id": "chr1:g.235894366A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235731066A>C?assembly=hg38",
        "id": "chr1:g.235731066A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34702903",
        "rs": 34702903
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235894366-A-C?dataset=gnomad_r2_1",
        "id": "1-235894366-A-C",
        "variant": "1:235894366 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235731066-A-C?dataset=gnomad_r3",
        "id": "1-235731066-A-C",
        "variant": "1:235731066 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-235731066-A-C?dataset=gnomad_r4",
        "id": "1-235731066-A-C",
        "variant": "1:235731066 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235731066,
          "referenceAllele": "A",
          "start": 235731065
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235731066A>C",
        "CM000663.2:g.235731066A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235894366,
          "referenceAllele": "A",
          "start": 235894365
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235894366A>C",
        "CM000663.1:g.235894366A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 233960989,
          "referenceAllele": "A",
          "start": 233960988
        }
      ],
      "hgvs": [
        "NC_000001.9:g.233960989A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157575,
          "referenceAllele": "T",
          "start": 157574
        }
      ],
      "hgvs": [
        "NG_007397.1:g.157575T>G",
        "LRG_143:g.157575T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4441,
          "referenceAllele": "T",
          "start": 4440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000461526.2:c.4441T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513165.1:n.4441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000475277.2:c.1008T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513164.1:p.Asn336Lys",
        "hgvsWellDefined": "ENSP00000513164.1:p.Asn336Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8969,
          "referenceAllele": "T",
          "start": 8968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*4337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*4337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2622,
          "referenceAllele": "T",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697236.1:c.2622T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513203.1:p.Asn874Lys",
        "hgvsWellDefined": "ENSP00000513203.1:p.Asn874Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "T",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697240.1:c.1047T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513205.1:p.Asn349Lys",
        "hgvsWellDefined": "ENSP00000513205.1:p.Asn349Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3393,
          "referenceAllele": "T",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697241.1:c.3393T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513206.1:p.Asn1131Lys",
        "hgvsWellDefined": "ENSP00000513206.1:p.Asn1131Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9074,
          "referenceAllele": "T",
          "start": 9073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.8913T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Asn2971Lys",
        "hgvsWellDefined": "ENSP00000374443.2:p.Asn2971Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.8913T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.8913T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Asn2971Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Asn2971Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9088,
          "referenceAllele": "T",
          "start": 9087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.8913T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Asn2971Lys",
        "hgvsWellDefined": "ENSP00000374443.2:p.Asn2971Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8665,
          "referenceAllele": "T",
          "start": 8664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*4337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*4337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3903,
          "referenceAllele": "T",
          "start": 3902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000473037.5:n.3903T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050133",
      "coordinates": [
        {
          "allele": "G",
          "end": 9095,
          "referenceAllele": "T",
          "start": 9094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.8913T>G",
        "LRG_143t1:c.8913T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Asn2971Lys",
        "hgvsWellDefined": "NP_000072.2:p.Asn2971Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658819243",
      "coordinates": [
        {
          "allele": "G",
          "end": 9532,
          "referenceAllele": "T",
          "start": 9531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.8913T>G",
        "LRG_143t2:c.8913T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Asn2971Lys",
        "hgvsWellDefined": "NP_001288294.1:p.Asn2971Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9257,
          "referenceAllele": "T",
          "start": 9256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_011542333.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9660,
          "referenceAllele": "T",
          "start": 9659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_011542334.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9458,
          "referenceAllele": "T",
          "start": 9457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_011542335.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9119,
          "referenceAllele": "T",
          "start": 9118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.8937T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Asn2979Lys",
        "hgvsWellDefined": "XP_011542336.1:p.Asn2979Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9257,
          "referenceAllele": "T",
          "start": 9256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.1:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_011542337.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6902,
          "referenceAllele": "T",
          "start": 6901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.6738T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Asn2246Lys",
        "hgvsWellDefined": "XP_011542338.1:p.Asn2246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9407,
          "referenceAllele": "T",
          "start": 9406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_011542335.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9257,
          "referenceAllele": "T",
          "start": 9256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.2:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_011542337.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6911,
          "referenceAllele": "T",
          "start": 6910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.6738T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Asn2246Lys",
        "hgvsWellDefined": "XP_011542338.1:p.Asn2246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9257,
          "referenceAllele": "T",
          "start": 9256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.9075T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Asn3025Lys",
        "hgvsWellDefined": "XP_016855639.1:p.Asn3025Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9948,
          "referenceAllele": "T",
          "start": 9947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.9948T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050133",
      "coordinates": [
        {
          "allele": "G",
          "end": 9074,
          "referenceAllele": "T",
          "start": 9073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.8913T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Asn2971Lys",
        "hgvsWellDefined": "NP_000072.2:p.Asn2971Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.8913T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.8913T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Asn2971Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Asn2971Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}