{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA469812369",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3312G>T (p.Leu1104=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959151G>T?assembly=hg19",
        "id": "chr10:g.69959151G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 68199394,
          "referenceAllele": "G",
          "start": 68199393
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199394G>T",
        "CM000672.2:g.68199394G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69959151,
          "referenceAllele": "G",
          "start": 69959150
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959151G>T",
        "CM000672.1:g.69959151G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69629157,
          "referenceAllele": "G",
          "start": 69629156
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629157G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98278,
          "referenceAllele": "G",
          "start": 98277
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98278G>T",
        "LRG_410:g.98278G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2737,
          "referenceAllele": "G",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2487G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Leu829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3367,
          "referenceAllele": "G",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3366G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Leu1122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3203,
          "referenceAllele": "G",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*575G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*575G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2583G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2583G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3549,
          "referenceAllele": "G",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3312G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3312G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Leu1104="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Leu1104="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2701,
          "referenceAllele": "G",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2487G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Leu829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2430G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Leu810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2430G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Leu810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077140577",
      "coordinates": [
        {
          "allele": "T",
          "end": 3604,
          "referenceAllele": "G",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3312G>T",
        "LRG_410t1:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2739G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3441,
          "referenceAllele": "G",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3441G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3366G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Leu1122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3343,
          "referenceAllele": "G",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3342G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Leu1114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 118,
          "referenceAllele": "C",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 119
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-119C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3940,
          "referenceAllele": "G",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3390G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Leu1130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3399,
          "referenceAllele": "G",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "G",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2190G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Leu730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2849,
          "referenceAllele": "G",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2849G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3386,
          "referenceAllele": "G",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3386G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3609,
          "referenceAllele": "G",
          "start": 3608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3853,
          "referenceAllele": "G",
          "start": 3852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2430G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Leu810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077140577",
      "coordinates": [
        {
          "allele": "T",
          "end": 3549,
          "referenceAllele": "G",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3312G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Leu1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3312G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3312G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Leu1104="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Leu1104="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}