{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384905912",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414410[alleleid]",
        "alleleId": 414410,
        "preferredName": "NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426039",
        "RCV": [
          "RCV000488579",
          "RCV002272257"
        ],
        "variationId": 426039
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52314625A>C?assembly=hg19",
        "id": "chr12:g.52314625A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51920841A>C?assembly=hg38",
        "id": "chr12:g.51920841A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307428",
        "rs": 1085307428
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51920841,
          "referenceAllele": "A",
          "start": 51920840
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51920841A>C",
        "CM000674.2:g.51920841A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52314625,
          "referenceAllele": "A",
          "start": 52314624
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52314625A>C",
        "CM000674.1:g.52314625A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 50600892,
          "referenceAllele": "A",
          "start": 50600891
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50600892A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18424,
          "referenceAllele": "A",
          "start": 18423
        }
      ],
      "hgvs": [
        "NG_009549.1:g.18424A>C",
        "LRG_543:g.18424A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.1190A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:p.Lys397Thr",
        "hgvsWellDefined": "ENSP00000446724.2:p.Lys397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "A",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Lys487Thr",
        "hgvsWellDefined": "ENSP00000455848.2:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Lys487Thr",
        "hgvsWellDefined": "ENSP00000373574.4:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1460A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1460A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Lys487Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Lys487Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Lys487Thr",
        "hgvsWellDefined": "ENSP00000373574.4:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1000,
          "referenceAllele": "A",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.938A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Lys313Thr",
        "hgvsWellDefined": "ENSP00000392492.2:p.Lys313Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.1502A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Lys501Thr",
        "hgvsWellDefined": "ENSP00000447884.1:p.Lys501Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091108",
      "coordinates": [
        {
          "allele": "C",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.1460A>C",
        "LRG_543t1:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Lys487Thr",
        "hgvsWellDefined": "NP_000011.2:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963832",
      "coordinates": [
        {
          "allele": "C",
          "end": 1606,
          "referenceAllele": "A",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Lys487Thr",
        "hgvsWellDefined": "NP_001070869.1:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "A",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Lys487Thr",
        "hgvsWellDefined": "XP_005269292.1:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.1190A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Lys397Thr",
        "hgvsWellDefined": "XP_011537310.1:p.Lys397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "referenceAllele": "A",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.671A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:p.Lys224Thr",
        "hgvsWellDefined": "XP_024305047.1:p.Lys224Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091108",
      "coordinates": [
        {
          "allele": "C",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Lys487Thr",
        "hgvsWellDefined": "NP_000011.2:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1460A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1460A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Lys487Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Lys487Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963832",
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "A",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.1460A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Lys487Thr",
        "hgvsWellDefined": "NP_001070869.1:p.Lys487Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}