{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1867255798",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.696G= (p.Lys232=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223811",
        "rs": 863223811
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 99137980,
          "referenceAllele": "G",
          "start": 99137979
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99137980G=",
        "CM000671.2:g.99137980G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 101900262,
          "referenceAllele": "G",
          "start": 101900261
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101900262G=",
        "CM000671.1:g.101900262G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 100940083,
          "referenceAllele": "G",
          "start": 100940082
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100940083G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37851,
          "referenceAllele": "G",
          "start": 37850
        }
      ],
      "hgvs": [
        "NG_007461.1:g.37851G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.489G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Lys163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.501G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 4555,
          "referenceAllele": "G",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 4556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.380-4556G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.380-4556G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.258G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Lys86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.501G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*492G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*492G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.696G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Lys232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.696G="
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.696G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Lys232="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Lys232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.465G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.696G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Lys232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.5:c.258G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.1:p.Lys86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.708G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:p.Lys236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.489G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Lys163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.708G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Lys236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.465G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.465G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.708G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Lys236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075982748",
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.696G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Lys232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075982748",
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.696G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Lys232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.501G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.489G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Lys163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Lys86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.501G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.489G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Lys163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3770,
          "referenceAllele": "G",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Lys86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 703,
          "referenceAllele": "G",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.501G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3995,
          "referenceAllele": "G",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.489G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Lys163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075982748",
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.696G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Lys232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.696G="
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.696G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Lys232="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Lys232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.465G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.708G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Lys236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}