{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397723884",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.879-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=940436[alleleid]",
        "alleleId": 940436,
        "preferredName": "NM_000018.4(ACADVL):c.879-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/940170",
        "RCV": [
          "RCV001209701"
        ],
        "variationId": 940170
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7125985G>A?assembly=hg19",
        "id": "chr17:g.7125985G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7222666G>A?assembly=hg38",
        "id": "chr17:g.7222666G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2071286572",
        "rs": 2071286572
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7222666,
          "referenceAllele": "G",
          "start": 7222665
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7222666G>A",
        "CM000679.2:g.7222666G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7125985,
          "referenceAllele": "G",
          "start": 7125984
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7125985G>A",
        "CM000679.1:g.7125985G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7066709,
          "referenceAllele": "G",
          "start": 7066708
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7066709G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7833,
          "referenceAllele": "G",
          "start": 7832
        }
      ],
      "hgvs": [
        "NG_007975.1:g.7833G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "hgvs": [
        "NG_008391.2:g.2385C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.879-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.879-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:n.879-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:n.879-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1094,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 934,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.813-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:n.813-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.948-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:n.948-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "G",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578824.5:n.27G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581378.5:c.597-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582379.1:n.263-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.813-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:n.813-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.948-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:n.948-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1107,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.651-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:n.651-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.986-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.986-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.986-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.938-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.938-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.938-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.879-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:n.879-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.879-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.879-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:n.879-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:n.879-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.813-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:n.813-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.948-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:n.948-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1000,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.651-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:n.651-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}