{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1630847900",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.1255+24G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/334354",
        "rs": 334354
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 99146633,
          "referenceAllele": "G",
          "start": 99146632
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99146633G=",
        "CM000671.2:g.99146633G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 101908915,
          "referenceAllele": "G",
          "start": 101908914
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101908915G=",
        "CM000671.1:g.101908915G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 100948736,
          "referenceAllele": "G",
          "start": 100948735
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100948736G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46504,
          "referenceAllele": "G",
          "start": 46503
        }
      ],
      "hgvs": [
        "NG_007461.1:g.46504G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1227,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.1048+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:n.1048+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1207,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.1060+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:n.1060+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1184,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.*177+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.*177+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1155,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.817+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:n.817+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1259,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.1060+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:n.1060+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1263,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*1051+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*1051+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1348,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1348,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.1255+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:n.1255+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1255+24G="
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1255+24G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:n.1255+24G="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:n.1255+24G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1119,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.1024+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:n.1024+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1372,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.1255+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:n.1255+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "endIntronDirection": "-",
          "endIntronOffset": 1020,
          "referenceAllele": "G",
          "start": 1198,
          "startIntronDirection": "-",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.1143-1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:n.1143-1021G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1245,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1245,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.1048+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:n.1048+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1323,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.1267+24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:n.1267+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1100,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.1024+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.1024+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1141,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.1024+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.1024+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1384,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1384,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.1267+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.1267+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1331,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1331,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.1255+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.1255+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1372,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.1255+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.1255+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.1060+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:n.1060+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1227,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.1048+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:n.1048+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1150,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.817+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:n.817+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.1060+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:n.1060+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1227,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.1048+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:n.1048+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4329,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 4329,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.817+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:n.817+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1262,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1262,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.1060+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:n.1060+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4554,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 4554,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.1048+24G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:n.1048+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1348,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1348,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.1255+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.1255+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1255+24G="
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1255+24G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:n.1255+24G="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:n.1255+24G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.1024+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.1024+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 1360,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1267+24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.1267+24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}