{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1917227427",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3421G= (p.Ala1141=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150404143",
        "rs": 150404143
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 68199503,
          "referenceAllele": "G",
          "start": 68199502
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199503G=",
        "CM000672.2:g.68199503G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 69959260,
          "referenceAllele": "G",
          "start": 69959259
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959260G=",
        "CM000672.1:g.69959260G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 69629266,
          "referenceAllele": "G",
          "start": 69629265
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629266G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98387,
          "referenceAllele": "G",
          "start": 98386
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98387G=",
        "LRG_410:g.98387G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2596G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ala866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3476,
          "referenceAllele": "G",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3475G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Ala1159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3602,
          "referenceAllele": "G",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3312,
          "referenceAllele": "G",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*684G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*684G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3779,
          "referenceAllele": "G",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2692G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2692G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3658,
          "referenceAllele": "G",
          "start": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3421G="
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3421G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ala1141="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ala1141="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2810,
          "referenceAllele": "G",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2596G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ala866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3909,
          "referenceAllele": "G",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "G",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4017,
          "referenceAllele": "G",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2539G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Ala847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826379534",
      "coordinates": [
        {
          "allele": "G",
          "end": 3608,
          "referenceAllele": "G",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826380304",
      "coordinates": [
        {
          "allele": "G",
          "end": 4017,
          "referenceAllele": "G",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2539G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ala847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830086811",
      "coordinates": [
        {
          "allele": "G",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3421G=",
        "LRG_410t1:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2848,
          "referenceAllele": "G",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2848G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3550,
          "referenceAllele": "G",
          "start": 3549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3550G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3697,
          "referenceAllele": "G",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3475G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Ala1159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3452,
          "referenceAllele": "G",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3451G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Ala1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 227,
          "referenceAllele": "C",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 228
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-228C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4049,
          "referenceAllele": "G",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3499G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Ala1167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3508,
          "referenceAllele": "G",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2735,
          "referenceAllele": "G",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2299G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Ala767="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2958,
          "referenceAllele": "G",
          "start": 2957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2958G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3495,
          "referenceAllele": "G",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3495G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826379534",
      "coordinates": [
        {
          "allele": "G",
          "end": 3718,
          "referenceAllele": "G",
          "start": 3717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826380304",
      "coordinates": [
        {
          "allele": "G",
          "end": 3962,
          "referenceAllele": "G",
          "start": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2539G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ala847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830086811",
      "coordinates": [
        {
          "allele": "G",
          "end": 3658,
          "referenceAllele": "G",
          "start": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3421G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3421G="
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3421G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ala1141="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ala1141="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}