{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376859312",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3433A>T (p.Lys1145Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959272A>T?assembly=hg19",
        "id": "chr10:g.69959272A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199515A>T?assembly=hg38",
        "id": "chr10:g.68199515A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768125215",
        "rs": 768125215
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-68199515-A-T?dataset=gnomad_r4",
        "id": "10-68199515-A-T",
        "variant": "10:68199515 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 68199515,
          "referenceAllele": "A",
          "start": 68199514
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199515A>T",
        "CM000672.2:g.68199515A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69959272,
          "referenceAllele": "A",
          "start": 69959271
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959272A>T",
        "CM000672.1:g.69959272A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69629278,
          "referenceAllele": "A",
          "start": 69629277
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629278A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98399,
          "referenceAllele": "A",
          "start": 98398
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98399A>T",
        "LRG_410:g.98399A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2858,
          "referenceAllele": "A",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2608A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Lys870Ter",
        "hgvsWellDefined": "ENSP00000346369.2:p.Lys870_Leu1045delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3488,
          "referenceAllele": "A",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3487A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Lys1163Ter",
        "hgvsWellDefined": "ENSP00000441668.3:p.Lys1163_Leu1338delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3614,
          "referenceAllele": "A",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Lys1145Ter",
        "hgvsWellDefined": "ENSP00000480757.2:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3324,
          "referenceAllele": "A",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*696A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*696A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3791,
          "referenceAllele": "A",
          "start": 3790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2704A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3670,
          "referenceAllele": "A",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Lys1145Ter",
        "hgvsWellDefined": "ENSP00000351790.5:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3433A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3433A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Lys1145Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Lys1145Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2822,
          "referenceAllele": "A",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2608A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Lys870Ter",
        "hgvsWellDefined": "ENSP00000346369.2:p.Lys870_Leu1045delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3921,
          "referenceAllele": "A",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Lys1145Ter",
        "hgvsWellDefined": "ENSP00000351790.5:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3620,
          "referenceAllele": "A",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Lys1145Ter",
        "hgvsWellDefined": "ENSP00000441668.2:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4029,
          "referenceAllele": "A",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2551A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Lys851Ter",
        "hgvsWellDefined": "ENSP00000480757.1:p.Lys851_Leu1026delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3620,
          "referenceAllele": "A",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Lys1145Ter",
        "hgvsWellDefined": "NP_001243196.1:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4029,
          "referenceAllele": "A",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2551A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Lys851Ter",
        "hgvsWellDefined": "NP_001243197.1:p.Lys851_Leu1026delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076938159",
      "coordinates": [
        {
          "allele": "T",
          "end": 3725,
          "referenceAllele": "A",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3433A>T",
        "LRG_410t1:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Lys1145Ter",
        "hgvsWellDefined": "NP_115967.2:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2860,
          "referenceAllele": "A",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2860A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3562,
          "referenceAllele": "A",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3562A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "A",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3487A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Lys1163Ter",
        "hgvsWellDefined": "XP_006718106.1:p.Lys1163_Leu1338delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3464,
          "referenceAllele": "A",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3463A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Lys1155Ter",
        "hgvsWellDefined": "XP_011538594.1:p.Lys1155_Leu1330delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 239,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 240
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-240T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4061,
          "referenceAllele": "A",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3511A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Lys1171Ter",
        "hgvsWellDefined": "XP_016872322.1:p.Lys1171_Leu1346delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3520,
          "referenceAllele": "A",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Lys1145Ter",
        "hgvsWellDefined": "XP_016872323.1:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2747,
          "referenceAllele": "A",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2311A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Lys771Ter",
        "hgvsWellDefined": "XP_024304004.1:p.Lys771_Leu946delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2970,
          "referenceAllele": "A",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2970A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3507,
          "referenceAllele": "A",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3507A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3730,
          "referenceAllele": "A",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Lys1145Ter",
        "hgvsWellDefined": "NP_001243196.1:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3974,
          "referenceAllele": "A",
          "start": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2551A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Lys851Ter",
        "hgvsWellDefined": "NP_001243197.1:p.Lys851_Leu1026delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076938159",
      "coordinates": [
        {
          "allele": "T",
          "end": 3670,
          "referenceAllele": "A",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3433A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Lys1145Ter",
        "hgvsWellDefined": "NP_115967.2:p.Lys1145_Leu1320delinsCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3433A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3433A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Lys1145Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Lys1145Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}