{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376858868",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3290G>T (p.Ser1097Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959129G>T?assembly=hg19",
        "id": "chr10:g.69959129G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199372G>T?assembly=hg38",
        "id": "chr10:g.68199372G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 68199372,
          "referenceAllele": "G",
          "start": 68199371
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199372G>T",
        "CM000672.2:g.68199372G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69959129,
          "referenceAllele": "G",
          "start": 69959128
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959129G>T",
        "CM000672.1:g.69959129G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69629135,
          "referenceAllele": "G",
          "start": 69629134
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629135G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98256,
          "referenceAllele": "G",
          "start": 98255
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98256G>T",
        "LRG_410:g.98256G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2465G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ser822Ile",
        "hgvsWellDefined": "ENSP00000346369.2:p.Ser822Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3345,
          "referenceAllele": "G",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3344G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Ser1115Ile",
        "hgvsWellDefined": "ENSP00000441668.3:p.Ser1115Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3471,
          "referenceAllele": "G",
          "start": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Ser1097Ile",
        "hgvsWellDefined": "ENSP00000480757.2:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "G",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*553G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*553G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3648,
          "referenceAllele": "G",
          "start": 3647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2561G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2561G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3527,
          "referenceAllele": "G",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ser1097Ile",
        "hgvsWellDefined": "ENSP00000351790.5:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3290G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3290G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ser1097Ile"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ser1097Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2679,
          "referenceAllele": "G",
          "start": 2678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2465G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ser822Ile",
        "hgvsWellDefined": "ENSP00000346369.2:p.Ser822Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3778,
          "referenceAllele": "G",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ser1097Ile",
        "hgvsWellDefined": "ENSP00000351790.5:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3477,
          "referenceAllele": "G",
          "start": 3476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Ser1097Ile",
        "hgvsWellDefined": "ENSP00000441668.2:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3886,
          "referenceAllele": "G",
          "start": 3885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2408G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Ser803Ile",
        "hgvsWellDefined": "ENSP00000480757.1:p.Ser803Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3477,
          "referenceAllele": "G",
          "start": 3476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ser1097Ile",
        "hgvsWellDefined": "NP_001243196.1:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3886,
          "referenceAllele": "G",
          "start": 3885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ser803Ile",
        "hgvsWellDefined": "NP_001243197.1:p.Ser803Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "referenceAllele": "G",
          "start": 3581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3290G>T",
        "LRG_410t1:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ser1097Ile",
        "hgvsWellDefined": "NP_115967.2:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "referenceAllele": "G",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2717G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3419,
          "referenceAllele": "G",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3419G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3566,
          "referenceAllele": "G",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3344G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Ser1115Ile",
        "hgvsWellDefined": "XP_006718106.1:p.Ser1115Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3320G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Ser1107Ile",
        "hgvsWellDefined": "XP_011538594.1:p.Ser1107Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 96,
          "referenceAllele": "C",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 97
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-97C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3918,
          "referenceAllele": "G",
          "start": 3917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3368G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Ser1123Ile",
        "hgvsWellDefined": "XP_016872322.1:p.Ser1123Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3377,
          "referenceAllele": "G",
          "start": 3376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Ser1097Ile",
        "hgvsWellDefined": "XP_016872323.1:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Ser723Ile",
        "hgvsWellDefined": "XP_024304004.1:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2827,
          "referenceAllele": "G",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2827G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3364,
          "referenceAllele": "G",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3364G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "referenceAllele": "G",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ser1097Ile",
        "hgvsWellDefined": "NP_001243196.1:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3831,
          "referenceAllele": "G",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ser803Ile",
        "hgvsWellDefined": "NP_001243197.1:p.Ser803Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3527,
          "referenceAllele": "G",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ser1097Ile",
        "hgvsWellDefined": "NP_115967.2:p.Ser1097Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3290G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3290G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ser1097Ile"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ser1097Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}