{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA263538",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70849[alleleid]",
        "alleleId": 70849,
        "preferredName": "NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56210",
        "RCV": [
          "RCV000049621",
          "RCV001192781",
          "RCV001646987"
        ],
        "variationId": 56210
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-40544293-A-G",
        "id": "1-40544293-A-G",
        "variant": "1:40544293 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40544293A>G?assembly=hg19",
        "id": "chr1:g.40544293A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40078621A>G?assembly=hg38",
        "id": "chr1:g.40078621A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833661",
        "rs": 386833661
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40544293-A-G?dataset=gnomad_r2_1",
        "id": "1-40544293-A-G",
        "variant": "1:40544293 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40078621-A-G?dataset=gnomad_r3",
        "id": "1-40078621-A-G",
        "variant": "1:40078621 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40078621-A-G?dataset=gnomad_r4",
        "id": "1-40078621-A-G",
        "variant": "1:40078621 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 40078621,
          "referenceAllele": "A",
          "start": 40078620
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40078621A>G",
        "CM000663.2:g.40078621A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 40544293,
          "referenceAllele": "A",
          "start": 40544292
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40544293A>G",
        "CM000663.1:g.40544293A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 40316880,
          "referenceAllele": "A",
          "start": 40316879
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40316880A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23850,
          "referenceAllele": "T",
          "start": 23849
        }
      ],
      "hgvs": [
        "NG_009192.1:g.23850T>C",
        "LRG_690:g.23850T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "referenceAllele": "T",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.662T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:p.Leu221Pro",
        "hgvsWellDefined": "ENSP00000394863.4:p.Leu221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:p.Leu222Pro",
        "hgvsWellDefined": "ENSP00000403207.2:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "referenceAllele": "T",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000392293.2:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.434T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:p.Leu145Pro",
        "hgvsWellDefined": "ENSP00000436695.3:p.Leu145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "referenceAllele": "T",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.6:c.8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:p.Leu3Pro",
        "hgvsWellDefined": "ENSP00000434007.1:p.Leu3Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.*288T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*288T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.643T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "T",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.902T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:p.Leu222Pro",
        "hgvsWellDefined": "ENSP00000493128.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 1707,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641381.1:c.149-1708T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "referenceAllele": "T",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.752T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:p.Leu251Pro",
        "hgvsWellDefined": "ENSP00000493146.1:p.Leu251Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 674,
          "referenceAllele": "T",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "T",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.*94T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:n.*94T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:p.Leu222Pro",
        "hgvsWellDefined": "ENSP00000493153.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.665T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.665T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Leu222Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Leu222Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62,
          "referenceAllele": "T",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372775.2:n.62T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.8:c.752T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.4:p.Leu251Pro",
        "hgvsWellDefined": "ENSP00000361865.4:p.Leu251Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "T",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:p.Leu222Pro",
        "hgvsWellDefined": "ENSP00000394863.3:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "T",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.5:c.350T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.1:p.Leu117Pro",
        "hgvsWellDefined": "ENSP00000403207.1:p.Leu117Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000392293.2:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 449,
          "referenceAllele": "T",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.440T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:p.Leu147Pro",
        "hgvsWellDefined": "ENSP00000436695.2:p.Leu147Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "T",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:p.Leu222Pro",
        "hgvsWellDefined": "ENSP00000432053.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "referenceAllele": "T",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.5:c.8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:p.Leu3Pro",
        "hgvsWellDefined": "ENSP00000434007.1:p.Leu3Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.*288T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*288T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111253",
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.665T>C",
        "LRG_690t1:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Leu222Pro",
        "hgvsWellDefined": "NP_000301.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805375",
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "referenceAllele": "T",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Leu119Pro",
        "hgvsWellDefined": "NP_001136076.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Leu222Pro",
        "hgvsWellDefined": "XP_005271065.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043987",
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Leu222Pro",
        "hgvsWellDefined": "NP_001350624.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111253",
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Leu222Pro",
        "hgvsWellDefined": "NP_000301.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.665T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.665T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Leu222Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Leu222Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805375",
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Leu119Pro",
        "hgvsWellDefined": "NP_001136076.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043987",
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Leu222Pro",
        "hgvsWellDefined": "NP_001350624.1:p.Leu222Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}