{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA263545",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.727-2A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70852[alleleid]",
        "alleleId": 70852,
        "preferredName": "NM_000310.4(PPT1):c.727-2A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56213",
        "RCV": [
          "RCV000049624",
          "RCV000224164"
        ],
        "variationId": 56213
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-40542587-T-A",
        "id": "1-40542587-T-A",
        "variant": "1:40542587 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40542587T>A?assembly=hg19",
        "id": "chr1:g.40542587T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40076915T>A?assembly=hg38",
        "id": "chr1:g.40076915T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833664",
        "rs": 386833664
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40542587-T-A?dataset=gnomad_r2_1",
        "id": "1-40542587-T-A",
        "variant": "1:40542587 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40076915-T-A?dataset=gnomad_r4",
        "id": "1-40076915-T-A",
        "variant": "1:40076915 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 40076915,
          "referenceAllele": "T",
          "start": 40076914
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40076915T>A",
        "CM000663.2:g.40076915T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 40542587,
          "referenceAllele": "T",
          "start": 40542586
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40542587T>A",
        "CM000663.1:g.40542587T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 40315174,
          "referenceAllele": "T",
          "start": 40315173
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40315174T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25556,
          "referenceAllele": "A",
          "start": 25555
        }
      ],
      "hgvs": [
        "NG_009192.1:g.25556A>T",
        "LRG_690:g.25556A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 737,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.724-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:n.724-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1645,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.726+1645A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:n.726+1645A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 439,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.418-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:n.418-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 509,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.496-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:n.496-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.6:c.70-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:n.70-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.*350-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*350-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 704,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.705-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 963,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.964-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.727-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:n.727-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641381.1:c.149-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 822,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.814-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:n.814-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*579-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*579-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 318,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.*156-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:n.*156-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.727-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:n.727-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.727-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.727-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:n.727-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:n.727-2A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372775.2:n.124-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.727-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:n.727-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 1645,
          "referenceAllele": "A",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.5:c.411+1645A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.1:n.411+1645A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.418-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:n.418-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 510,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.502-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:n.502-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 733,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.727-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:n.727-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.5:c.70-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:n.70-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.*350-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*350-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 958,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.727-2A>T",
        "LRG_690t1:c.727-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:n.727-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.418-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.418-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "endIntronDirection": "+",
          "endIntronOffset": 1645,
          "referenceAllele": "A",
          "start": 742,
          "startIntronDirection": "+",
          "startIntronOffset": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.726+1645A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:n.726+1645A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 1645,
          "referenceAllele": "A",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.726+1645A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:n.726+1645A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.727-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:n.727-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.727-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.727-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:n.727-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:n.727-2A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.418-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.418-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1645,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.726+1645A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:n.726+1645A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}