{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA263526",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4007892",
        "active": true,
        "id": "COSM4007892"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70843[alleleid]",
        "alleleId": 70843,
        "preferredName": "NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56204",
        "RCV": [
          "RCV000049615",
          "RCV000731854",
          "RCV003155060",
          "RCV002345360"
        ],
        "variationId": 56204
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-40546146-C-T",
        "id": "1-40546146-C-T",
        "variant": "1:40546146 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40546146C>T?assembly=hg19",
        "id": "chr1:g.40546146C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40080474C>T?assembly=hg38",
        "id": "chr1:g.40080474C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833655",
        "rs": 386833655
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40546146-C-T?dataset=gnomad_r2_1",
        "id": "1-40546146-C-T",
        "variant": "1:40546146 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40080474-C-T?dataset=gnomad_r3",
        "id": "1-40080474-C-T",
        "variant": "1:40080474 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40080474-C-T?dataset=gnomad_r4",
        "id": "1-40080474-C-T",
        "variant": "1:40080474 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40080474,
          "referenceAllele": "C",
          "start": 40080473
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40080474C>T",
        "CM000663.2:g.40080474C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40546146,
          "referenceAllele": "C",
          "start": 40546145
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40546146C>T",
        "CM000663.1:g.40546146C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40318733,
          "referenceAllele": "C",
          "start": 40318732
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40318733C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21997,
          "referenceAllele": "G",
          "start": 21996
        }
      ],
      "hgvs": [
        "NG_009192.1:g.21997G>A",
        "LRG_690:g.21997G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.9:c.*386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.5:n.*386G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:p.Glu183Lys",
        "hgvsWellDefined": "ENSP00000394863.4:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:p.Glu184Lys",
        "hgvsWellDefined": "ENSP00000403207.2:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "referenceAllele": "G",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Glu81Lys",
        "hgvsWellDefined": "ENSP00000392293.2:p.Glu81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:p.Glu107Lys",
        "hgvsWellDefined": "ENSP00000436695.3:p.Glu107Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.6:c.-108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:n.-108G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.*173G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*173G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:p.Glu184Lys",
        "hgvsWellDefined": "ENSP00000493128.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 3560,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641381.1:c.149-3561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:p.Glu213Lys",
        "hgvsWellDefined": "ENSP00000493146.1:p.Glu213Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*402G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*402G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:p.Pro46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:p.Glu184Lys",
        "hgvsWellDefined": "ENSP00000493153.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.550G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.550G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Glu184Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Glu184Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.8:c.637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.4:p.Glu213Lys",
        "hgvsWellDefined": "ENSP00000361865.4:p.Glu213Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:p.Glu184Lys",
        "hgvsWellDefined": "ENSP00000394863.3:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.5:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.1:p.Glu79Lys",
        "hgvsWellDefined": "ENSP00000403207.1:p.Glu79Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Glu81Lys",
        "hgvsWellDefined": "ENSP00000392293.2:p.Glu81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.325G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:p.Glu109Lys",
        "hgvsWellDefined": "ENSP00000436695.2:p.Glu109Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:p.Glu184Lys",
        "hgvsWellDefined": "ENSP00000432053.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.5:c.-108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:n.-108G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.*173G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*173G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263528",
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.550G>A",
        "LRG_690t1:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Glu184Lys",
        "hgvsWellDefined": "NP_000301.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979803",
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Glu81Lys",
        "hgvsWellDefined": "NP_001136076.1:p.Glu81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Glu184Lys",
        "hgvsWellDefined": "XP_005271065.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103385",
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Glu184Lys",
        "hgvsWellDefined": "NP_001350624.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263528",
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Glu184Lys",
        "hgvsWellDefined": "NP_000301.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.550G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.550G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Glu184Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Glu184Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979803",
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Glu81Lys",
        "hgvsWellDefined": "NP_001136076.1:p.Glu81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103385",
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Glu184Lys",
        "hgvsWellDefined": "NP_001350624.1:p.Glu184Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}