{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384900328",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414387[alleleid]",
        "alleleId": 414387,
        "preferredName": "NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426016",
        "RCV": [
          "RCV000488626"
        ],
        "variationId": 426016
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52309024A>G?assembly=hg19",
        "id": "chr12:g.52309024A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51915240A>G?assembly=hg38",
        "id": "chr12:g.51915240A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307408",
        "rs": 1085307408
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 51915240,
          "referenceAllele": "A",
          "start": 51915239
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51915240A>G",
        "CM000674.2:g.51915240A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52309024,
          "referenceAllele": "A",
          "start": 52309023
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52309024A>G",
        "CM000674.1:g.52309024A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 50595291,
          "referenceAllele": "A",
          "start": 50595290
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50595291A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12823,
          "referenceAllele": "A",
          "start": 12822
        }
      ],
      "hgvs": [
        "NG_009549.1:g.12823A>G",
        "LRG_543:g.12823A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.518A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:p.Asp173Gly",
        "hgvsWellDefined": "ENSP00000446724.2:p.Asp173Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Asp263Gly",
        "hgvsWellDefined": "ENSP00000455848.2:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 868,
          "referenceAllele": "A",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000552678.2:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457394.2:p.Asp263Gly",
        "hgvsWellDefined": "ENSP00000457394.2:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "A",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Asp263Gly",
        "hgvsWellDefined": "ENSP00000373574.4:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.788A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.788A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Asp263Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Asp263Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Asp263Gly",
        "hgvsWellDefined": "ENSP00000373574.4:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 328,
          "referenceAllele": "A",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.266A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Asp89Gly",
        "hgvsWellDefined": "ENSP00000392492.2:p.Asp89Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.830A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Asp277Gly",
        "hgvsWellDefined": "ENSP00000447884.1:p.Asp277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430280",
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.788A>G",
        "LRG_543t1:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Asp263Gly",
        "hgvsWellDefined": "NP_000011.2:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963523",
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "A",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Asp263Gly",
        "hgvsWellDefined": "NP_001070869.1:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Asp263Gly",
        "hgvsWellDefined": "XP_005269292.1:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 617,
          "referenceAllele": "A",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.518A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Asp173Gly",
        "hgvsWellDefined": "XP_011537310.1:p.Asp173Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:n.-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430280",
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "A",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Asp263Gly",
        "hgvsWellDefined": "NP_000011.2:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.788A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.788A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Asp263Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Asp263Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963523",
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.788A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Asp263Gly",
        "hgvsWellDefined": "NP_001070869.1:p.Asp263Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}