{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376858872",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3291T>G (p.Ser1097Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959130T>G?assembly=hg19",
        "id": "chr10:g.69959130T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199373T>G?assembly=hg38",
        "id": "chr10:g.68199373T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 68199373,
          "referenceAllele": "T",
          "start": 68199372
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199373T>G",
        "CM000672.2:g.68199373T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 69959130,
          "referenceAllele": "T",
          "start": 69959129
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959130T>G",
        "CM000672.1:g.69959130T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 69629136,
          "referenceAllele": "T",
          "start": 69629135
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629136T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98257,
          "referenceAllele": "T",
          "start": 98256
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98257T>G",
        "LRG_410:g.98257T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2716,
          "referenceAllele": "T",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2466T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ser822Arg",
        "hgvsWellDefined": "ENSP00000346369.2:p.Ser822Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3346,
          "referenceAllele": "T",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3345T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Ser1115Arg",
        "hgvsWellDefined": "ENSP00000441668.3:p.Ser1115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3472,
          "referenceAllele": "T",
          "start": 3471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Ser1097Arg",
        "hgvsWellDefined": "ENSP00000480757.2:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3182,
          "referenceAllele": "T",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*554T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*554T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3649,
          "referenceAllele": "T",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2562T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2562T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3528,
          "referenceAllele": "T",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ser1097Arg",
        "hgvsWellDefined": "ENSP00000351790.5:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3291T>G"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3291T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ser1097Arg"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ser1097Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2680,
          "referenceAllele": "T",
          "start": 2679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2466T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ser822Arg",
        "hgvsWellDefined": "ENSP00000346369.2:p.Ser822Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3779,
          "referenceAllele": "T",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ser1097Arg",
        "hgvsWellDefined": "ENSP00000351790.5:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3478,
          "referenceAllele": "T",
          "start": 3477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Ser1097Arg",
        "hgvsWellDefined": "ENSP00000441668.2:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3887,
          "referenceAllele": "T",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2409T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Ser803Arg",
        "hgvsWellDefined": "ENSP00000480757.1:p.Ser803Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3478,
          "referenceAllele": "T",
          "start": 3477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ser1097Arg",
        "hgvsWellDefined": "NP_001243196.1:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3887,
          "referenceAllele": "T",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2409T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ser803Arg",
        "hgvsWellDefined": "NP_001243197.1:p.Ser803Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3583,
          "referenceAllele": "T",
          "start": 3582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3291T>G",
        "LRG_410t1:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ser1097Arg",
        "hgvsWellDefined": "NP_115967.2:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2718,
          "referenceAllele": "T",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2718T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3420,
          "referenceAllele": "T",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3420T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3567,
          "referenceAllele": "T",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3345T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Ser1115Arg",
        "hgvsWellDefined": "XP_006718106.1:p.Ser1115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "T",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3321T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Ser1107Arg",
        "hgvsWellDefined": "XP_011538594.1:p.Ser1107Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 97,
          "referenceAllele": "A",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 98
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-98A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3919,
          "referenceAllele": "T",
          "start": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3369T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Ser1123Arg",
        "hgvsWellDefined": "XP_016872322.1:p.Ser1123Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3378,
          "referenceAllele": "T",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Ser1097Arg",
        "hgvsWellDefined": "XP_016872323.1:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2605,
          "referenceAllele": "T",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2169T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Ser723Arg",
        "hgvsWellDefined": "XP_024304004.1:p.Ser723Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2828,
          "referenceAllele": "T",
          "start": 2827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2828T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3365,
          "referenceAllele": "T",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3365T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3588,
          "referenceAllele": "T",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ser1097Arg",
        "hgvsWellDefined": "NP_001243196.1:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3832,
          "referenceAllele": "T",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2409T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ser803Arg",
        "hgvsWellDefined": "NP_001243197.1:p.Ser803Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3528,
          "referenceAllele": "T",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3291T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ser1097Arg",
        "hgvsWellDefined": "NP_115967.2:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3291T>G"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3291T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ser1097Arg"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ser1097Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}