{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2245711921",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1280G= (p.Trp427=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516519",
        "rs": 1057516519
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7223823,
          "referenceAllele": "G",
          "start": 7223822
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7223823G=",
        "CM000679.2:g.7223823G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7127142,
          "referenceAllele": "G",
          "start": 7127141
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7127142G=",
        "CM000679.1:g.7127142G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7067866,
          "referenceAllele": "G",
          "start": 7067865
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7067866G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8990,
          "referenceAllele": "G",
          "start": 8989
        }
      ],
      "hgvs": [
        "NG_007975.1:g.8990G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "hgvs": [
        "NG_008391.2:g.1228C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15722,
          "referenceAllele": "C",
          "start": 15721
        }
      ],
      "hgvs": [
        "NG_033038.1:g.15722C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1280G="
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1280G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Trp427="
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Trp427="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1235G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1214G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Trp405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.138G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "G",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1349G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Trp450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578579.2:n.451G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.319G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578824.5:n.696G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.304G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.117G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55,
          "referenceAllele": "G",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.55G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.309G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000585203.6:n.488G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388591"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084558884",
      "coordinates": [
        {
          "allele": "G",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1214G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Trp405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "G",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1349G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Trp450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1052G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Trp351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1387G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1387G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1387G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1339G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1339G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1339G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084558884",
      "coordinates": [
        {
          "allele": "G",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1280G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Trp427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1280G="
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1280G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Trp427="
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Trp427="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1214G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Trp405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "G",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1349G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Trp450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1052G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Trp351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}