{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA263645784",
  "communityStandardTitle": [
    "NM_019589.3(YLPM1):c.4936C>T (p.Arg1646Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5748496",
        "active": true,
        "id": "COSM5748496"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5748497",
        "active": true,
        "id": "COSM5748497"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75276497C>T?assembly=hg19",
        "id": "chr14:g.75276497C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74809794C>T?assembly=hg38",
        "id": "chr14:g.74809794C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/954412463",
        "rs": 954412463
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74809794-C-T?dataset=gnomad_r3",
        "id": "14-74809794-C-T",
        "variant": "14:74809794 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74809794-C-T?dataset=gnomad_r4",
        "id": "14-74809794-C-T",
        "variant": "14:74809794 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 74809794,
          "referenceAllele": "C",
          "start": 74809793
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74809794C>T",
        "CM000676.2:g.74809794C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 75276497,
          "referenceAllele": "C",
          "start": 75276496
        }
      ],
      "hgvs": [
        "NC_000014.8:g.75276497C>T",
        "CM000676.1:g.75276497C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 74346250,
          "referenceAllele": "C",
          "start": 74346249
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74346250C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "ENST00000325680.12:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324463.7:p.Arg1646Ter",
        "hgvsWellDefined": "ENSP00000324463.7:p.Arg1646_Ile2146delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746713",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325680.12:c.4936C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019589.3:c.4936C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324463.7:p.Arg1646Ter"
          },
          "RefSeq": {
            "hgvs": "NP_062535.2:p.Arg1646Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5060,
          "referenceAllele": "C",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "ENST00000325680.11:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324463.7:p.Arg1646Ter",
        "hgvsWellDefined": "ENSP00000324463.7:p.Arg1646_Ile2146delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "referenceAllele": "C",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "ENST00000547879.5:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448367.1:p.Arg55Ter",
        "hgvsWellDefined": "ENSP00000448367.1:p.Arg55_Val466delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuValGlyAspArgProThrThrLeuAsnSerValSerLeuLeuLysPheLeuLysLysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3595,
          "referenceAllele": "C",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "ENST00000549293.5:c.3595C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449860.1:p.Arg1199Ter",
        "hgvsWellDefined": "ENSP00000449860.1:p.Arg1199_Ala1595delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuThrSerTrpMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2942,
          "referenceAllele": "C",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "ENST00000552421.5:c.2818C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447921.1:p.Arg940Ter",
        "hgvsWellDefined": "ENSP00000447921.1:p.Arg940_Ile1440delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081402040",
      "coordinates": [
        {
          "allele": "T",
          "end": 5060,
          "referenceAllele": "C",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "NM_019589.2:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_062535.2:p.Arg1646Ter",
        "hgvsWellDefined": "NP_062535.2:p.Arg1646_Ile2146delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5104,
          "referenceAllele": "C",
          "start": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XM_005267860.3:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267917.1:p.Arg1646Ter",
        "hgvsWellDefined": "XP_005267917.1:p.Arg1646_Val2061delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuValCysHisValGluGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4207,
          "referenceAllele": "C",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XM_011536966.1:c.3721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535268.1:p.Arg1241Ter",
        "hgvsWellDefined": "XP_011535268.1:p.Arg1241_Ile1741delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "C",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XM_011536967.1:c.2818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535269.1:p.Arg940Ter",
        "hgvsWellDefined": "XP_011535269.1:p.Arg940_Ile1440delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5104,
          "referenceAllele": "C",
          "start": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XR_943494.1:n.5104C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XM_005267860.4:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267917.1:p.Arg1646Ter",
        "hgvsWellDefined": "XP_005267917.1:p.Arg1646_Val2061delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuValCysHisValGluGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4219,
          "referenceAllele": "C",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XM_011536966.2:c.3721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535268.1:p.Arg1241Ter",
        "hgvsWellDefined": "XP_011535268.1:p.Arg1241_Ile1741delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2992,
          "referenceAllele": "C",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XM_011536967.2:c.2818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535269.1:p.Arg940Ter",
        "hgvsWellDefined": "XP_011535269.1:p.Arg940_Ile1440delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "XR_001750436.2:n.5110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081402040",
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017798",
      "geneNCBI_id": 56252,
      "geneSymbol": "YLPM1",
      "hgvs": [
        "NM_019589.3:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_062535.2:p.Arg1646Ter",
        "hgvsWellDefined": "NP_062535.2:p.Arg1646_Ile2146delinsAspIleSerThrAsnLysValGluGlnIleProTyrGlyGluArgIleThrLeuArgProAspProLeuProGluArgSerThrPheGluThrGluHisAlaGlyGlnArgAspArgTyrAspArgGluArgAspArgGluProTyrPheAspArgGlnSerAsnValIleAlaAspHisArgAspPheLysArgAspArgGluThrHisArgAspArgAspArgAspArgGlyValIleAspTyrAspArgAspArgPheAspArgGluArgArgProArgAspAspArgAlaGlnSerTyrArgAspLysLysAspHisSerSerSerArgArgGlyGlyPheAspArgProSerTyrAspArgLysSerAspArgProValTyrGluGlyProSerMetPheGlyGlyGluArgArgThrTyrProGluGluArgMetProLeuProAlaProSerLeuSerHisGlnProProProAlaProArgValGluLysLysProGluSerLysAsnValAspAspIleLeuLysProProGlyArgGluSerArgProGluArgIleValValIleMetArgGlyLeuProGlySerGlyLysThrHisValAlaLysLeuIleArgAspLysGluValGluPheGlyGlyProAlaProArgValLeuSerLeuAspAspTyrPheIleThrGluValGluLysGluGluLysAspProAspSerGlyLysLysValLysLysLysValMetGluTyrGluTyrGluAlaGluMetGluGluThrTyrArgThrSerMetPheLysThrPheLysLysThrLeuAspAspGlyPhePheProPheIleIleLeuAspAlaIleAsnAspArgValArgHisPheAspGlnPheTrpSerAlaAlaLysThrLysGlyPheGluValTyrLeuAlaGluMetSerAlaAspAsnGlnThrCysGlyLysArgAsnIleHisGlyArgLysLeuLysGluIleAsnLysMetAlaAspHisTrpGluThrAlaProArgHisMetMetArgLeuAspIleArgSerLeuLeuGlnAspAlaAlaIleGluGluValGluMetGluAspPheAspAlaAsnIleGluGluGlnLysGluGluLysLysAspAlaGluGluGluGluSerGluLeuGlyTyrIleProLysSerLysTrpGluMetAspThrSerGluAlaLysLeuAspLysLeuAspGlyLeuArgThrGlyThrLysArgLysArgAspTrpGluAlaIleAlaSerArgMetGluAspTyrLeuGlnLeuProAspAspTyrAspThrArgAlaSerGluProGlyLysLysArgValArgTrpAlaAspLeuGluGluLysLysAspAlaAspArgLysArgAlaIleGlyPheValValGlyGlnThrAspTrpGluLysIleThrAspGluSerGlyHisLeuAlaGluLysAlaLeuAsnArgThrLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669852",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325680.12:c.4936C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019589.3:c.4936C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324463.7:p.Arg1646Ter"
          },
          "RefSeq": {
            "hgvs": "NP_062535.2:p.Arg1646Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}