{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374121269",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421767[alleleid]",
        "alleleId": 421767,
        "preferredName": "NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429530",
        "RCV": [
          "RCV000493575",
          "RCV002413356"
        ],
        "variationId": 429530
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98270457C>A?assembly=hg19",
        "id": "chr9:g.98270457C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95508175C>A?assembly=hg38",
        "id": "chr9:g.95508175C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781768965",
        "rs": 781768965
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95508175,
          "referenceAllele": "C",
          "start": 95508174
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95508175C>A",
        "CM000671.2:g.95508175C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 98270457,
          "referenceAllele": "C",
          "start": 98270456
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98270457C>A",
        "CM000671.1:g.98270457C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97310278,
          "referenceAllele": "C",
          "start": 97310277
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97310278C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13791,
          "referenceAllele": "G",
          "start": 13790
        }
      ],
      "hgvs": [
        "NG_007664.1:g.13791G>T",
        "LRG_515:g.13791G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.199-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:n.199-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.199-1576G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.199-1576G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:n.199-1576G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:n.199-1576G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.187G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.187G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Glu63Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Glu63Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.199-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:n.199-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000468211.6:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449745.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 8294,
          "referenceAllele": "G",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 8293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551425.1:n.190+8294G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "endIntronDirection": "+",
          "endIntronOffset": 8448,
          "referenceAllele": "G",
          "start": 36,
          "startIntronDirection": "+",
          "startIntronOffset": 8447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551623.1:c.36+8448G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447242.1:n.36+8448G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.187G>T",
        "LRG_515t1:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.4-1576G>T",
        "LRG_515t2:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.199-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.199-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "endIntronDirection": "+",
          "endIntronOffset": 8294,
          "referenceAllele": "G",
          "start": 64,
          "startIntronDirection": "+",
          "startIntronOffset": 8293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.-60+8294G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:n.-60+8294G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.199-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.199-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.1:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.375G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.187G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.187G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Glu63Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Glu63Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Glu63Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.1092G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.199-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.199-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.199-1576G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.199-1576G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:n.199-1576G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:n.199-1576G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "G",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.4-1576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:n.4-1576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}