{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384905272",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6137045",
        "active": true,
        "id": "COSM6137045"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6137046",
        "active": true,
        "id": "COSM6137046"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414402[alleleid]",
        "alleleId": 414402,
        "preferredName": "NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426031",
        "RCV": [
          "RCV000488647",
          "RCV000756968",
          "RCV002395184",
          "RCV002527017"
        ],
        "variationId": 426031
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52314550C>G?assembly=hg19",
        "id": "chr12:g.52314550C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51920766C>G?assembly=hg38",
        "id": "chr12:g.51920766C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307422",
        "rs": 1085307422
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 51920766,
          "referenceAllele": "C",
          "start": 51920765
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51920766C>G",
        "CM000674.2:g.51920766C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52314550,
          "referenceAllele": "C",
          "start": 52314549
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52314550C>G",
        "CM000674.1:g.52314550C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 50600817,
          "referenceAllele": "C",
          "start": 50600816
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50600817C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18349,
          "referenceAllele": "C",
          "start": 18348
        }
      ],
      "hgvs": [
        "NG_009549.1:g.18349C>G",
        "LRG_543:g.18349C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.1115C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:p.Ser372Ter",
        "hgvsWellDefined": "ENSP00000446724.2:p.Ser372_Gln413delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Ser462Ter",
        "hgvsWellDefined": "ENSP00000455848.2:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Ser462Ter",
        "hgvsWellDefined": "ENSP00000373574.4:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1385C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1385C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Ser462Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Ser462Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Ser462Ter",
        "hgvsWellDefined": "ENSP00000373574.4:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.863C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Ser288Ter",
        "hgvsWellDefined": "ENSP00000392492.2:p.Ser288_Gln329delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.1427C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Ser476Ter",
        "hgvsWellDefined": "ENSP00000447884.1:p.Ser476_Gln517delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430423",
      "coordinates": [
        {
          "allele": "G",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.1385C>G",
        "LRG_543t1:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Ser462Ter",
        "hgvsWellDefined": "NP_000011.2:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963805",
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Ser462Ter",
        "hgvsWellDefined": "NP_001070869.1:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Ser462Ter",
        "hgvsWellDefined": "XP_005269292.1:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.1115C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011537310.1:p.Ser372_Gln413delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.596C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:p.Ser199Ter",
        "hgvsWellDefined": "XP_024305047.1:p.Ser199_Gln240delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430423",
      "coordinates": [
        {
          "allele": "G",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Ser462Ter",
        "hgvsWellDefined": "NP_000011.2:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1385C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1385C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Ser462Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Ser462Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963805",
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.1385C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Ser462Ter",
        "hgvsWellDefined": "NP_001070869.1:p.Ser462_Gln503delinsGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}