{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1917227386",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3326A= (p.Asn1109=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1419019328",
        "rs": 1419019328
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 68199408,
          "referenceAllele": "A",
          "start": 68199407
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199408A=",
        "CM000672.2:g.68199408A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 69959165,
          "referenceAllele": "A",
          "start": 69959164
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959165A=",
        "CM000672.1:g.69959165A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 69629171,
          "referenceAllele": "A",
          "start": 69629170
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629171A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98292,
          "referenceAllele": "A",
          "start": 98291
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98292A=",
        "LRG_410:g.98292A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2501A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Asn834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3381,
          "referenceAllele": "A",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3380A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Asn1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3507,
          "referenceAllele": "A",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3217,
          "referenceAllele": "A",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*589A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*589A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "A",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2597A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2597A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3563,
          "referenceAllele": "A",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3326A="
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3326A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Asn1109="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Asn1109="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2715,
          "referenceAllele": "A",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2501A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Asn834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3814,
          "referenceAllele": "A",
          "start": 3813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "A",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3922,
          "referenceAllele": "A",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "A",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3922,
          "referenceAllele": "A",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077251246",
      "coordinates": [
        {
          "allele": "A",
          "end": 3618,
          "referenceAllele": "A",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3326A=",
        "LRG_410t1:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "referenceAllele": "A",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2753A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3455,
          "referenceAllele": "A",
          "start": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3455A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3602,
          "referenceAllele": "A",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3380A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Asn1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3357,
          "referenceAllele": "A",
          "start": 3356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Asn1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 132,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 133
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-133T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3954,
          "referenceAllele": "A",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Asn1135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3413,
          "referenceAllele": "A",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2640,
          "referenceAllele": "A",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2204A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Asn735="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2863,
          "referenceAllele": "A",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2863A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3400,
          "referenceAllele": "A",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3400A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3623,
          "referenceAllele": "A",
          "start": 3622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3867,
          "referenceAllele": "A",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077251246",
      "coordinates": [
        {
          "allele": "A",
          "end": 3563,
          "referenceAllele": "A",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Asn1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3326A="
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3326A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Asn1109="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Asn1109="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}