{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA469812475",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3423A>T (p.Ala1141=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959262A>T?assembly=hg19",
        "id": "chr10:g.69959262A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 68199505,
          "referenceAllele": "A",
          "start": 68199504
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199505A>T",
        "CM000672.2:g.68199505A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69959262,
          "referenceAllele": "A",
          "start": 69959261
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959262A>T",
        "CM000672.1:g.69959262A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69629268,
          "referenceAllele": "A",
          "start": 69629267
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629268A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98389,
          "referenceAllele": "A",
          "start": 98388
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98389A>T",
        "LRG_410:g.98389A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2848,
          "referenceAllele": "A",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2598A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ala866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3478,
          "referenceAllele": "A",
          "start": 3477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3477A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Ala1159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3604,
          "referenceAllele": "A",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3314,
          "referenceAllele": "A",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*686A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*686A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "A",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2694A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3660,
          "referenceAllele": "A",
          "start": 3659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3423A>T"
      ],
      "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.3423A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3423A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ala1141="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ala1141="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2812,
          "referenceAllele": "A",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2598A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Ala866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3911,
          "referenceAllele": "A",
          "start": 3910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3610,
          "referenceAllele": "A",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4019,
          "referenceAllele": "A",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2541A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Ala847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826379534",
      "coordinates": [
        {
          "allele": "T",
          "end": 3610,
          "referenceAllele": "A",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826380304",
      "coordinates": [
        {
          "allele": "T",
          "end": 4019,
          "referenceAllele": "A",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2541A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ala847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830086811",
      "coordinates": [
        {
          "allele": "T",
          "end": 3715,
          "referenceAllele": "A",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3423A>T",
        "LRG_410t1:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2850,
          "referenceAllele": "A",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2850A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "A",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3552A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3699,
          "referenceAllele": "A",
          "start": 3698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3477A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Ala1159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3454,
          "referenceAllele": "A",
          "start": 3453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3453A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Ala1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 229,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 230
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-230T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4051,
          "referenceAllele": "A",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3501A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Ala1167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3510,
          "referenceAllele": "A",
          "start": 3509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2737,
          "referenceAllele": "A",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2301A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Ala767="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2960,
          "referenceAllele": "A",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2960A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3497,
          "referenceAllele": "A",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3497A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826379534",
      "coordinates": [
        {
          "allele": "T",
          "end": 3720,
          "referenceAllele": "A",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3423A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Ala1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826380304",
      "coordinates": [
        {
          "allele": "T",
          "end": 3964,
          "referenceAllele": "A",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2541A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Ala847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830086811",
      "coordinates": [
        {
          "allele": "T",
          "end": 3660,
          "referenceAllele": "A",
          "start": 3659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3423A>T"
      ],
      "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.3423A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3423A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Ala1141="
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Ala1141="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}