{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344993",
  "communityStandardTitle": [
    "NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76569[alleleid]",
        "alleleId": 76569,
        "preferredName": "NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65661",
        "RCV": [
          "RCV000055874"
        ],
        "variationId": 65661
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68582847A>C?assembly=hg19",
        "id": "chr11:g.68582847A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68815379A>C?assembly=hg38",
        "id": "chr11:g.68815379A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356786",
        "rs": 80356786
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68815379,
          "referenceAllele": "A",
          "start": 68815378
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68815379A>C",
        "CM000673.2:g.68815379A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68582847,
          "referenceAllele": "A",
          "start": 68582846
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68582847A>C",
        "CM000673.1:g.68582847A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68339423,
          "referenceAllele": "A",
          "start": 68339422
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68339423A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31553,
          "referenceAllele": "T",
          "start": 31552
        }
      ],
      "hgvs": [
        "NG_011801.1:g.31553T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001982"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.10:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000265641.4:p.Tyr32_Lys773delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.96T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.96T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Tyr32Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Tyr32Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.9:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000265641.4:p.Tyr32_Lys773delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "T",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000376618.6:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365803.2:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000365803.2:p.Tyr32_Thr756delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "referenceAllele": "T",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000539743.5:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446108.1:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000446108.1:p.Tyr32_Lys773delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "referenceAllele": "T",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000540367.5:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439084.1:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000439084.1:p.Tyr32_Thr756delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000561996.1:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457663.1:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000457663.1:p.Tyr32Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 203,
          "referenceAllele": "T",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000565318.5:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457826.1:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000457826.1:p.Tyr32Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "T",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000569129.5:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455116.1:p.Tyr32Ter",
        "hgvsWellDefined": "ENSP00000455116.1:p.Tyr32_Leu118del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344994",
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "T",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.2:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Tyr32Ter",
        "hgvsWellDefined": "NP_001027017.1:p.Tyr32_Thr756delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344995",
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "T",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.3:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Tyr32Ter",
        "hgvsWellDefined": "NP_001867.2:p.Tyr32_Lys773delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "T",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.1:c.192T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Tyr64Ter",
        "hgvsWellDefined": "XP_005273819.1:p.Tyr64_Lys805delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "T",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273763.1:c.192T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273820.1:p.Tyr64Ter",
        "hgvsWellDefined": "XP_005273820.1:p.Tyr64_Thr788delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "T",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.3:c.192T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Tyr64Ter",
        "hgvsWellDefined": "XP_005273819.1:p.Tyr64_Lys805delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_017017220.1:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872709.1:p.Tyr32Ter",
        "hgvsWellDefined": "XP_016872709.1:p.Tyr32_Lys773delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344995",
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.4:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Tyr32Ter",
        "hgvsWellDefined": "NP_001867.2:p.Tyr32_Lys773delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.96T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.96T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Tyr32Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Tyr32Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA344994",
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.3:c.96T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Tyr32Ter",
        "hgvsWellDefined": "NP_001027017.1:p.Tyr32_Thr756delinsLeuSerGlyLeuHisSerTrpLysLysLysPheIleArgPheLysAsnGlyIleIleThrGlyValTyrProAlaSerProSerSerTrpLeuIleValValValGlyValMetThrThrMetTyrAlaLysIleAspProSerLeuGlyIleIleAlaLysIleAsnArgThrLeuGluThrAlaAsnCysMetSerSerGlnThrLysAsnValValSerGlyValLeuPheGlyThrGlyLeuTrpValAlaLeuIleValThrMetArgTyrSerLeuLysValLeuLeuSerTyrHisGlyTrpMetPheThrGluHisGlyLysMetSerArgAlaThrLysIleTrpMetGlyMetValLysIlePheSerGlyArgLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711494"
    }
  ],
  "type": "nucleotide"
}