{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6263171",
  "communityStandardTitle": [
    "NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1350700",
        "active": true,
        "id": "COSM1350700"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363710[alleleid]",
        "alleleId": 363710,
        "preferredName": "NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376832",
        "RCV": [
          "RCV000434420",
          "RCV000689417"
        ],
        "variationId": 376832
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108010834-C-T",
        "id": "11-108010834-C-T",
        "variant": "11:108010834 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108010834C>T?assembly=hg19",
        "id": "chr11:g.108010834C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108140107C>T?assembly=hg38",
        "id": "chr11:g.108140107C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/532190594",
        "rs": 532190594
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108010834-C-T?dataset=gnomad_r2_1",
        "id": "11-108010834-C-T",
        "variant": "11:108010834 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108140107-C-T?dataset=gnomad_r3",
        "id": "11-108140107-C-T",
        "variant": "11:108140107 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108140107-C-T?dataset=gnomad_r4",
        "id": "11-108140107-C-T",
        "variant": "11:108140107 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108140107,
          "referenceAllele": "C",
          "start": 108140106
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108140107C>T",
        "CM000673.2:g.108140107C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108010834,
          "referenceAllele": "C",
          "start": 108010833
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108010834C>T",
        "CM000673.1:g.108010834C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107516044,
          "referenceAllele": "C",
          "start": 107516043
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107516044C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23577,
          "referenceAllele": "C",
          "start": 23576
        }
      ],
      "hgvs": [
        "NG_009888.1:g.23577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28403,
          "referenceAllele": "C",
          "start": 28402
        }
      ],
      "hgvs": [
        "NG_009888.2:g.28403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706100"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.9:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Arg208Ter",
        "hgvsWellDefined": "ENSP00000265838.4:p.Arg208_Leu427delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.622C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.622C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Arg208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Arg208Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000671707.1:n.717C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672008.1:c.*180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500499.1:n.*180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672031.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500463.1:p.Arg208Ter",
        "hgvsWellDefined": "ENSP00000500463.1:p.Arg208_Ser315delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672284.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500444.1:p.Arg118Ter",
        "hgvsWellDefined": "ENSP00000500444.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672354.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500490.1:p.Arg208Ter",
        "hgvsWellDefined": "ENSP00000500490.1:p.Arg208_Leu434delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyLysCysPheLeuAsnPheArgMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672367.1:c.259C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500209.1:p.Arg87Ter",
        "hgvsWellDefined": "ENSP00000500209.1:p.Arg87_Leu306delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "endIntronDirection": "+",
          "endIntronOffset": 1066,
          "referenceAllele": "C",
          "start": 633,
          "startIntronDirection": "+",
          "startIntronOffset": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672580.1:c.579+1066C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500366.1:n.579+1066C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672907.1:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500928.1:p.Arg103Ter",
        "hgvsWellDefined": "ENSP00000500928.1:p.Arg103_Leu322delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673000.1:n.710C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673531.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500163.1:p.Arg118Ter",
        "hgvsWellDefined": "ENSP00000500163.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.8:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Arg208Ter",
        "hgvsWellDefined": "ENSP00000265838.4:p.Arg208_Leu427delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000531813.5:c.*95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435965.1:n.*95C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000532792.5:n.117C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000533610.1:n.83C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000534773.1:n.365C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393650",
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.3:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Arg208Ter",
        "hgvsWellDefined": "NP_000010.1:p.Arg208_Leu427delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718834.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718897.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_006718897.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718835.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718898.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_006718898.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718835.3:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718898.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_006718898.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017681.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873170.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_016873170.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017682.2:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873171.1:p.Arg82Ter",
        "hgvsWellDefined": "XP_016873171.1:p.Arg82_Leu301delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017683.2:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873172.1:p.Arg82Ter",
        "hgvsWellDefined": "XP_016873172.1:p.Arg82_Leu301delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448511.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304279.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_024304279.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448512.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304280.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_024304280.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448513.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304281.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_024304281.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448514.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304282.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_024304282.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448515.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304283.1:p.Arg118Ter",
        "hgvsWellDefined": "XP_024304283.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393650",
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.4:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Arg208Ter",
        "hgvsWellDefined": "NP_000010.1:p.Arg208_Leu427delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.622C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.622C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Arg208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Arg208Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386677.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373606.1:p.Arg208Ter",
        "hgvsWellDefined": "NP_001373606.1:p.Arg208_Leu434delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyLysCysPheLeuAsnPheArgMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386678.1:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373607.1:p.Arg103Ter",
        "hgvsWellDefined": "NP_001373607.1:p.Arg103_Leu322delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386679.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373608.1:p.Arg109Ter",
        "hgvsWellDefined": "NP_001373608.1:p.Arg109_Leu328delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386681.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373610.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373610.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386682.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373611.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373611.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386685.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373614.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373614.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386686.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373615.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373615.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386687.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373616.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373616.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386688.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373617.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373617.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386689.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373618.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373618.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386690.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373619.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373619.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386691.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373620.1:p.Arg118Ter",
        "hgvsWellDefined": "NP_001373620.1:p.Arg118_Leu337delinsAsnGluGlnAspAlaTyrAlaIleAsnSerTyrThrArgSerLysAlaAlaTrpGluAlaGlyLysPheGlyAsnGluValIleProValThrValThrValLysGlyGlnProAspValValValLysGluAspGluGluTyrLysArgValAspPheSerLysValProLysLeuLysThrValPheGlnLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170162.1:n.662C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170163.1:n.655C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732464"
    }
  ],
  "type": "nucleotide"
}