{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA243138",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193410[alleleid]",
        "alleleId": 193410,
        "preferredName": "NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196249",
        "RCV": [
          "RCV000625813",
          "RCV000724058",
          "RCV002516724",
          "RCV001252359",
          "RCV003235097"
        ],
        "variationId": 196249
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-40557750-T-C",
        "id": "1-40557750-T-C",
        "variant": "1:40557750 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40557750T>C?assembly=hg19",
        "id": "chr1:g.40557750T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40092078T>C?assembly=hg38",
        "id": "chr1:g.40092078T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142894102",
        "rs": 142894102
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40557750-T-C?dataset=gnomad_r2_1",
        "id": "1-40557750-T-C",
        "variant": "1:40557750 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40092078-T-C?dataset=gnomad_r3",
        "id": "1-40092078-T-C",
        "variant": "1:40092078 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40092078-T-C?dataset=gnomad_r4",
        "id": "1-40092078-T-C",
        "variant": "1:40092078 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 40092078,
          "referenceAllele": "T",
          "start": 40092077
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40092078T>C",
        "CM000663.2:g.40092078T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 40557750,
          "referenceAllele": "T",
          "start": 40557749
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40557750T>C",
        "CM000663.1:g.40557750T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 40330337,
          "referenceAllele": "T",
          "start": 40330336
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40330337T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10393,
          "referenceAllele": "A",
          "start": 10392
        }
      ],
      "hgvs": [
        "NG_009192.1:g.10393A>G",
        "LRG_690:g.10393A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.9:c.*165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.5:n.*165A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000394863.4:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000403207.2:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "A",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.125-2566A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:n.125-2566A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000526547.2:c.609A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 320,
          "referenceAllele": "A",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.234+320A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:n.234+320A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000431655.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "A",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.307A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.566A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000493128.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "A",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.416A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:p.Asn139Ser",
        "hgvsWellDefined": "ENSP00000493146.1:p.Asn139Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "referenceAllele": "A",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641548.1:c.*181A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492984.1:n.*181A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*181A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*181A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 5037,
          "referenceAllele": "A",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.124+5037A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:n.124+5037A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000493153.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.329A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.329A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Asn110Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Asn110Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "A",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.8:c.416A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.4:p.Asn139Ser",
        "hgvsWellDefined": "ENSP00000361865.4:p.Asn139Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000394863.3:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14,
          "referenceAllele": "A",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.5:c.14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.1:p.Asn5Ser",
        "hgvsWellDefined": "ENSP00000403207.1:p.Asn5Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "A",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.125-2566A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:n.125-2566A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 450,
          "referenceAllele": "A",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000526547.1:c.179A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436481.1:p.Asn60Ser",
        "hgvsWellDefined": "ENSP00000436481.1:p.Asn60Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 20,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.125-21A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:n.125-21A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "referenceAllele": "A",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000432053.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:p.Asn110Ser",
        "hgvsWellDefined": "ENSP00000431655.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA243140",
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.329A>G",
        "LRG_690t1:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Asn110Ser",
        "hgvsWellDefined": "NP_000301.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "A",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.125-2566A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2566A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Asn110Ser",
        "hgvsWellDefined": "XP_005271065.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043972",
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Asn110Ser",
        "hgvsWellDefined": "NP_001350624.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA243140",
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Asn110Ser",
        "hgvsWellDefined": "NP_000301.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.329A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.329A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Asn110Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Asn110Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "A",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.125-2566A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2566A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043972",
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Asn110Ser",
        "hgvsWellDefined": "NP_001350624.1:p.Asn110Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}