{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1917227431",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3427A= (p.Thr1143=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1307645556",
        "rs": 1307645556
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 68199509,
          "referenceAllele": "A",
          "start": 68199508
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199509A=",
        "CM000672.2:g.68199509A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 69959266,
          "referenceAllele": "A",
          "start": 69959265
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959266A=",
        "CM000672.1:g.69959266A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 69629272,
          "referenceAllele": "A",
          "start": 69629271
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629272A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98393,
          "referenceAllele": "A",
          "start": 98392
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98393A=",
        "LRG_410:g.98393A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2852,
          "referenceAllele": "A",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2602A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Thr868="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3482,
          "referenceAllele": "A",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3481A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Thr1161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3608,
          "referenceAllele": "A",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3318,
          "referenceAllele": "A",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*690A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*690A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "A",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2698A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2698A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3664,
          "referenceAllele": "A",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3427A="
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3427A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Thr1143="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Thr1143="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2816,
          "referenceAllele": "A",
          "start": 2815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2602A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Thr868="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3915,
          "referenceAllele": "A",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3614,
          "referenceAllele": "A",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4023,
          "referenceAllele": "A",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2545A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Thr849="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3614,
          "referenceAllele": "A",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4023,
          "referenceAllele": "A",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2545A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Thr849="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077180565",
      "coordinates": [
        {
          "allele": "A",
          "end": 3719,
          "referenceAllele": "A",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3427A=",
        "LRG_410t1:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "A",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2854A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3556,
          "referenceAllele": "A",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3556A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3703,
          "referenceAllele": "A",
          "start": 3702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3481A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Thr1161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3458,
          "referenceAllele": "A",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3457A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Thr1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-234T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4055,
          "referenceAllele": "A",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3505A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Thr1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3514,
          "referenceAllele": "A",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "A",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2305A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Thr769="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2964,
          "referenceAllele": "A",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2964A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3501,
          "referenceAllele": "A",
          "start": 3500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3501A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3724,
          "referenceAllele": "A",
          "start": 3723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "referenceAllele": "A",
          "start": 3967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2545A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Thr849="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077180565",
      "coordinates": [
        {
          "allele": "A",
          "end": 3664,
          "referenceAllele": "A",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3427A="
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3427A="
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3427A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Thr1143="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Thr1143="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}