{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397726015",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1844G>T (p.Arg615Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7128292G>T?assembly=hg19",
        "id": "chr17:g.7128292G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7224973G>T?assembly=hg38",
        "id": "chr17:g.7224973G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148584617",
        "rs": 148584617
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7128292-G-T?dataset=gnomad_r2_1",
        "id": "17-7128292-G-T",
        "variant": "17:7128292 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7224973-G-T?dataset=gnomad_r4",
        "id": "17-7224973-G-T",
        "variant": "17:7224973 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7224973,
          "referenceAllele": "G",
          "start": 7224972
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7224973G>T",
        "CM000679.2:g.7224973G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7128292,
          "referenceAllele": "G",
          "start": 7128291
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7128292G>T",
        "CM000679.1:g.7128292G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7069016,
          "referenceAllele": "G",
          "start": 7069015
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7069016G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10140,
          "referenceAllele": "G",
          "start": 10139
        }
      ],
      "hgvs": [
        "NG_007975.1:g.10140G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "referenceAllele": "C",
          "start": 77
        }
      ],
      "hgvs": [
        "NG_008391.2:g.78C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14572,
          "referenceAllele": "C",
          "start": 14571
        }
      ],
      "hgvs": [
        "NG_033038.1:g.14572C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "G",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1844G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg615Leu",
        "hgvsWellDefined": "ENSP00000349297.5:p.Arg615Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1844G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1844G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg615Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg615Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1799G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1799G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1778G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Arg593Leu",
        "hgvsWellDefined": "ENSP00000344152.5:p.Arg593Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "G",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1844G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg615Leu",
        "hgvsWellDefined": "ENSP00000349297.5:p.Arg615Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.723G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "G",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1913G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Arg638Leu",
        "hgvsWellDefined": "ENSP00000438689.2:p.Arg638Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578033.1:n.269G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578319.5:n.425G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.1469G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578809.5:n.416G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.960G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.579G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583848.5:c.210G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466487.1:n.210G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.615G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084006240",
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1844G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg615Leu",
        "hgvsWellDefined": "NP_000009.1:p.Arg615Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1778G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg593Leu",
        "hgvsWellDefined": "NP_001029031.1:p.Arg593Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "G",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1913G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg638Leu",
        "hgvsWellDefined": "NP_001257376.1:p.Arg638Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2073,
          "referenceAllele": "G",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1616G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg539Leu",
        "hgvsWellDefined": "NP_001257377.1:p.Arg539Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1865G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg622Leu",
        "hgvsWellDefined": "XP_006721579.2:p.Arg622Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1763G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Arg588Leu",
        "hgvsWellDefined": "XP_011522131.1:p.Arg588Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "G",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1742G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg581Leu",
        "hgvsWellDefined": "XP_011522132.1:p.Arg581Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1947,
          "referenceAllele": "G",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1947G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1853,
          "referenceAllele": "G",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1853G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1874,
          "referenceAllele": "G",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1874G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1924,
          "referenceAllele": "G",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1865G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg622Leu",
        "hgvsWellDefined": "XP_006721579.2:p.Arg622Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1763G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Arg588Leu",
        "hgvsWellDefined": "XP_011522131.1:p.Arg588Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1742G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg581Leu",
        "hgvsWellDefined": "XP_011522132.1:p.Arg581Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "G",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1832G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Arg611Leu",
        "hgvsWellDefined": "XP_024306509.1:p.Arg611Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1899G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1805G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "G",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1826G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084006240",
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "G",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1844G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg615Leu",
        "hgvsWellDefined": "NP_000009.1:p.Arg615Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1844G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1844G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg615Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg615Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1778G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg593Leu",
        "hgvsWellDefined": "NP_001029031.1:p.Arg593Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "G",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1913G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg638Leu",
        "hgvsWellDefined": "NP_001257376.1:p.Arg638Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "G",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1616G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg539Leu",
        "hgvsWellDefined": "NP_001257377.1:p.Arg539Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}