{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1867263867",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.1199A= (p.Asp400=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918711",
        "rs": 121918711
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 99146553,
          "referenceAllele": "A",
          "start": 99146552
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99146553A=",
        "CM000671.2:g.99146553A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 101908835,
          "referenceAllele": "A",
          "start": 101908834
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101908835A=",
        "CM000671.1:g.101908835A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 100948656,
          "referenceAllele": "A",
          "start": 100948655
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100948656A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46424,
          "referenceAllele": "A",
          "start": 46423
        }
      ],
      "hgvs": [
        "NG_007461.1:g.46424A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "A",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.992A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Asp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.1004A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Asp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "A",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.*121A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.*121A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "A",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "A",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.1004A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Asp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "A",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*995A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*995A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Asp400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1199A="
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1199A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Asp400="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Asp400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "A",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.968A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "referenceAllele": "A",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Asp400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "endIntronDirection": "-",
          "endIntronOffset": 1100,
          "referenceAllele": "A",
          "start": 1198,
          "startIntronDirection": "-",
          "startIntronOffset": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.1143-1101A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:n.1143-1101A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.992A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Asp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "A",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.1211A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Asp404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.968A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "A",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.968A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1328,
          "referenceAllele": "A",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.1211A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Asp404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625847",
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "A",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Asp400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625847",
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "referenceAllele": "A",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Asp400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.1004A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Asp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "A",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.992A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Asp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "A",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.1004A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Asp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "A",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.992A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Asp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4273,
          "referenceAllele": "A",
          "start": 4272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "A",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.1004A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Asp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4498,
          "referenceAllele": "A",
          "start": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.992A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Asp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625847",
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.1199A="
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Asp400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1199A="
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1199A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Asp400="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Asp400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "referenceAllele": "A",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.968A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1211A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Asp404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}