{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008855",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=277669",
        "active": true,
        "id": "COSM277669"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27563[alleleid]",
        "alleleId": 27563,
        "preferredName": "NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12524",
        "RCV": [
          "RCV000013350",
          "RCV000030540",
          "RCV000244262",
          "RCV000442105",
          "RCV000617152",
          "RCV000845292",
          "RCV003224094"
        ],
        "variationId": 12524
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101900288C>T?assembly=hg19",
        "id": "chr9:g.101900288C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99138006C>T?assembly=hg38",
        "id": "chr9:g.99138006C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111854391",
        "rs": 111854391
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99138006-C-T?dataset=gnomad_r4",
        "id": "9-99138006-C-T",
        "variant": "9:99138006 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 99138006,
          "referenceAllele": "C",
          "start": 99138005
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99138006C>T",
        "CM000671.2:g.99138006C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 101900288,
          "referenceAllele": "C",
          "start": 101900287
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101900288C>T",
        "CM000671.1:g.101900288C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 100940109,
          "referenceAllele": "C",
          "start": 100940108
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100940109C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37877,
          "referenceAllele": "C",
          "start": 37876
        }
      ],
      "hgvs": [
        "NG_007461.1:g.37877C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Ser172Leu",
        "hgvsWellDefined": "ENSP00000449934.2:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.527C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Ser176Leu",
        "hgvsWellDefined": "ENSP00000447182.3:p.Ser176Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 4529,
          "referenceAllele": "C",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 4530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.380-4530C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.380-4530C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.284C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Ser95Leu",
        "hgvsWellDefined": "ENSP00000449028.2:p.Ser95Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.527C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Ser176Leu",
        "hgvsWellDefined": "ENSP00000514048.1:p.Ser176Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*518C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Ser241Leu",
        "hgvsWellDefined": "ENSP00000364133.4:p.Ser241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.722C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.722C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Ser241Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Ser241Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.491C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Ser164Leu",
        "hgvsWellDefined": "ENSP00000364129.2:p.Ser164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Ser241Leu",
        "hgvsWellDefined": "ENSP00000364133.4:p.Ser241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.5:c.284C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.1:p.Ser95Leu",
        "hgvsWellDefined": "ENSP00000449028.1:p.Ser95Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:p.Ser245Leu",
        "hgvsWellDefined": "ENSP00000446685.1:p.Ser245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Ser172Leu",
        "hgvsWellDefined": "ENSP00000450052.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Ser245Leu",
        "hgvsWellDefined": "ENSP00000447297.1:p.Ser245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744524",
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.491C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ser164Leu",
        "hgvsWellDefined": "NP_001124388.1:p.Ser164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744524",
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.491C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ser164Leu",
        "hgvsWellDefined": "NP_001124388.1:p.Ser164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020521",
      "coordinates": [
        {
          "allele": "T",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Ser245Leu",
        "hgvsWellDefined": "NP_001293139.1:p.Ser245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096341",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ser241Leu",
        "hgvsWellDefined": "NP_004603.1:p.Ser241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096341",
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ser241Leu",
        "hgvsWellDefined": "NP_004603.1:p.Ser241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.527C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Ser176Leu",
        "hgvsWellDefined": "XP_011517250.1:p.Ser176Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Ser172Leu",
        "hgvsWellDefined": "XP_011517251.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Ser95Leu",
        "hgvsWellDefined": "XP_011517252.1:p.Ser95Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.527C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Ser176Leu",
        "hgvsWellDefined": "XP_011517250.1:p.Ser176Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Ser172Leu",
        "hgvsWellDefined": "XP_011517251.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3796,
          "referenceAllele": "C",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Ser95Leu",
        "hgvsWellDefined": "XP_011517252.1:p.Ser95Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.527C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Ser176Leu",
        "hgvsWellDefined": "XP_016870552.1:p.Ser176Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4021,
          "referenceAllele": "C",
          "start": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Ser172Leu",
        "hgvsWellDefined": "XP_024303426.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096341",
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ser241Leu",
        "hgvsWellDefined": "NP_004603.1:p.Ser241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.722C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.722C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Ser241Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Ser241Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744524",
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.491C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ser164Leu",
        "hgvsWellDefined": "NP_001124388.1:p.Ser164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020521",
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Ser245Leu",
        "hgvsWellDefined": "NP_001293139.1:p.Ser245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}