{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1144228739",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.272A= (p.Gln91=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833639",
        "rs": 386833639
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40092135,
          "referenceAllele": "T",
          "start": 40092134
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40092135T=",
        "CM000663.2:g.40092135T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40557807,
          "referenceAllele": "T",
          "start": 40557806
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40557807T=",
        "CM000663.1:g.40557807T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40330394,
          "referenceAllele": "T",
          "start": 40330393
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40330394T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10336,
          "referenceAllele": "A",
          "start": 10335
        }
      ],
      "hgvs": [
        "NG_009192.1:g.10336A=",
        "LRG_690:g.10336A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.9:c.*108A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.5:n.*108A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.269A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:p.Gln90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 2622,
          "referenceAllele": "A",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.125-2623A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:n.125-2623A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000526547.2:c.552A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 263,
          "referenceAllele": "A",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.234+263A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:n.234+263A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.250A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "A",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.509A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "A",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.359A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:p.Gln120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641548.1:c.*124A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492984.1:n.*124A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "A",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*124A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*124A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 4980,
          "referenceAllele": "A",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 4979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.124+4980A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:n.124+4980A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.272A="
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.272A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Gln91="
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Gln91="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.8:c.359A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.4:p.Gln120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 2622,
          "referenceAllele": "A",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.125-2623A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:n.125-2623A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000526547.1:c.122A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436481.1:p.Gln41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 77,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.125-78A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:n.125-78A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134808",
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.272A=",
        "LRG_690t1:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 2622,
          "referenceAllele": "A",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.125-2623A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2623A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134808",
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.272A="
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.272A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Gln91="
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Gln91="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 2622,
          "referenceAllele": "A",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.125-2623A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2623A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.272A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Gln91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}