{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376859265",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3410C>G (p.Thr1137Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959249C>G?assembly=hg19",
        "id": "chr10:g.69959249C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199492C>G?assembly=hg38",
        "id": "chr10:g.68199492C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 68199492,
          "referenceAllele": "C",
          "start": 68199491
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199492C>G",
        "CM000672.2:g.68199492C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 69959249,
          "referenceAllele": "C",
          "start": 69959248
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959249C>G",
        "CM000672.1:g.69959249C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 69629255,
          "referenceAllele": "C",
          "start": 69629254
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629255C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98376,
          "referenceAllele": "C",
          "start": 98375
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98376C>G",
        "LRG_410:g.98376C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2835,
          "referenceAllele": "C",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2585C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Thr862Ser",
        "hgvsWellDefined": "ENSP00000346369.2:p.Thr862Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3465,
          "referenceAllele": "C",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3464C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Thr1155Ser",
        "hgvsWellDefined": "ENSP00000441668.3:p.Thr1155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3591,
          "referenceAllele": "C",
          "start": 3590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Thr1137Ser",
        "hgvsWellDefined": "ENSP00000480757.2:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3301,
          "referenceAllele": "C",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*673C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*673C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3768,
          "referenceAllele": "C",
          "start": 3767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2681C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2681C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3647,
          "referenceAllele": "C",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Thr1137Ser",
        "hgvsWellDefined": "ENSP00000351790.5:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3410C>G"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3410C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Thr1137Ser"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Thr1137Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2799,
          "referenceAllele": "C",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2585C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Thr862Ser",
        "hgvsWellDefined": "ENSP00000346369.2:p.Thr862Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3898,
          "referenceAllele": "C",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Thr1137Ser",
        "hgvsWellDefined": "ENSP00000351790.5:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Thr1137Ser",
        "hgvsWellDefined": "ENSP00000441668.2:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4006,
          "referenceAllele": "C",
          "start": 4005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2528C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Thr843Ser",
        "hgvsWellDefined": "ENSP00000480757.1:p.Thr843Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Thr1137Ser",
        "hgvsWellDefined": "NP_001243196.1:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4006,
          "referenceAllele": "C",
          "start": 4005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2528C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Thr843Ser",
        "hgvsWellDefined": "NP_001243197.1:p.Thr843Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3702,
          "referenceAllele": "C",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3410C>G",
        "LRG_410t1:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Thr1137Ser",
        "hgvsWellDefined": "NP_115967.2:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2837,
          "referenceAllele": "C",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2837C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3539,
          "referenceAllele": "C",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3539C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3686,
          "referenceAllele": "C",
          "start": 3685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3464C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Thr1155Ser",
        "hgvsWellDefined": "XP_006718106.1:p.Thr1155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3441,
          "referenceAllele": "C",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3440C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Thr1147Ser",
        "hgvsWellDefined": "XP_011538594.1:p.Thr1147Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 216,
          "referenceAllele": "G",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 217
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-217G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4038,
          "referenceAllele": "C",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3488C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Thr1163Ser",
        "hgvsWellDefined": "XP_016872322.1:p.Thr1163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3497,
          "referenceAllele": "C",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Thr1137Ser",
        "hgvsWellDefined": "XP_016872323.1:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2724,
          "referenceAllele": "C",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2288C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Thr763Ser",
        "hgvsWellDefined": "XP_024304004.1:p.Thr763Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2947,
          "referenceAllele": "C",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2947C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3484,
          "referenceAllele": "C",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3484C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3707,
          "referenceAllele": "C",
          "start": 3706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Thr1137Ser",
        "hgvsWellDefined": "NP_001243196.1:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3951,
          "referenceAllele": "C",
          "start": 3950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2528C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Thr843Ser",
        "hgvsWellDefined": "NP_001243197.1:p.Thr843Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3647,
          "referenceAllele": "C",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3410C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Thr1137Ser",
        "hgvsWellDefined": "NP_115967.2:p.Thr1137Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3410C>G"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3410C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Thr1137Ser"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Thr1137Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}