{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339846460",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.748G>A (p.Gly250Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2078144[alleleid]",
        "alleleId": 2078144,
        "preferredName": "NM_000310.4(PPT1):c.748G>A (p.Gly250Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2027933",
        "RCV": [
          "RCV002889598"
        ],
        "variationId": 2027933
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40542564C>T?assembly=hg19",
        "id": "chr1:g.40542564C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40076892C>T?assembly=hg38",
        "id": "chr1:g.40076892C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1648657739",
        "rs": 1648657739
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40076892-C-T?dataset=gnomad_r3",
        "id": "1-40076892-C-T",
        "variant": "1:40076892 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40076892-C-T?dataset=gnomad_r4",
        "id": "1-40076892-C-T",
        "variant": "1:40076892 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40076892,
          "referenceAllele": "C",
          "start": 40076891
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40076892C>T",
        "CM000663.2:g.40076892C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40542564,
          "referenceAllele": "C",
          "start": 40542563
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40542564C>T",
        "CM000663.1:g.40542564C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40315151,
          "referenceAllele": "C",
          "start": 40315150
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40315151C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25579,
          "referenceAllele": "G",
          "start": 25578
        }
      ],
      "hgvs": [
        "NG_009192.1:g.25579G>A",
        "LRG_690:g.25579G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:p.Gly249Ser",
        "hgvsWellDefined": "ENSP00000394863.4:p.Gly249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1668,
          "referenceAllele": "G",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.726+1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:n.726+1668G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Gly147Ser",
        "hgvsWellDefined": "ENSP00000392293.2:p.Gly147Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.517G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:p.Gly173Ser",
        "hgvsWellDefined": "ENSP00000436695.3:p.Gly173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.6:c.91G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:p.Gly31Ser",
        "hgvsWellDefined": "ENSP00000434007.1:p.Gly31Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.*371G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*371G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.726G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.985G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:p.Gly250Ser",
        "hgvsWellDefined": "ENSP00000493128.1:p.Gly250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641381.1:c.170G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.835G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:p.Gly279Ser",
        "hgvsWellDefined": "ENSP00000493146.1:p.Gly279Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*600G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.*177G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:n.*177G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:p.Gly250Ser",
        "hgvsWellDefined": "ENSP00000493153.1:p.Gly250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.748G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.748G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Gly250Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Gly250Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145,
          "referenceAllele": "G",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372775.2:n.145G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:p.Gly250Ser",
        "hgvsWellDefined": "ENSP00000394863.3:p.Gly250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 1668,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.5:c.411+1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.1:n.411+1668G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Gly147Ser",
        "hgvsWellDefined": "ENSP00000392293.2:p.Gly147Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.523G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:p.Gly175Ser",
        "hgvsWellDefined": "ENSP00000436695.2:p.Gly175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:p.Gly250Ser",
        "hgvsWellDefined": "ENSP00000432053.1:p.Gly250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.5:c.91G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:p.Gly31Ser",
        "hgvsWellDefined": "ENSP00000434007.1:p.Gly31Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.*371G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*371G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580113495",
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.748G>A",
        "LRG_690t1:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Gly250Ser",
        "hgvsWellDefined": "NP_000301.1:p.Gly250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805431",
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Gly147Ser",
        "hgvsWellDefined": "NP_001136076.1:p.Gly147Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "endIntronDirection": "+",
          "endIntronOffset": 1668,
          "referenceAllele": "G",
          "start": 742,
          "startIntronDirection": "+",
          "startIntronOffset": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.726+1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:n.726+1668G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 1668,
          "referenceAllele": "G",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.726+1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:n.726+1668G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580113495",
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Gly250Ser",
        "hgvsWellDefined": "NP_000301.1:p.Gly250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.748G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.748G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Gly250Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Gly250Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805431",
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Gly147Ser",
        "hgvsWellDefined": "NP_001136076.1:p.Gly147Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1668,
          "referenceAllele": "G",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.726+1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:n.726+1668G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}