{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376858882",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3295T>A (p.Leu1099Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959134T>A?assembly=hg19",
        "id": "chr10:g.69959134T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199377T>A?assembly=hg38",
        "id": "chr10:g.68199377T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 68199377,
          "referenceAllele": "T",
          "start": 68199376
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199377T>A",
        "CM000672.2:g.68199377T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 69959134,
          "referenceAllele": "T",
          "start": 69959133
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959134T>A",
        "CM000672.1:g.69959134T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 69629140,
          "referenceAllele": "T",
          "start": 69629139
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629140T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98261,
          "referenceAllele": "T",
          "start": 98260
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98261T>A",
        "LRG_410:g.98261T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2720,
          "referenceAllele": "T",
          "start": 2719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2470T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Leu824Ile",
        "hgvsWellDefined": "ENSP00000346369.2:p.Leu824Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3350,
          "referenceAllele": "T",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3349T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Leu1117Ile",
        "hgvsWellDefined": "ENSP00000441668.3:p.Leu1117Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3476,
          "referenceAllele": "T",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Leu1099Ile",
        "hgvsWellDefined": "ENSP00000480757.2:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3186,
          "referenceAllele": "T",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*558T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*558T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3653,
          "referenceAllele": "T",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2566T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2566T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3532,
          "referenceAllele": "T",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Leu1099Ile",
        "hgvsWellDefined": "ENSP00000351790.5:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3295T>A"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3295T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Leu1099Ile"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Leu1099Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "T",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2470T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Leu824Ile",
        "hgvsWellDefined": "ENSP00000346369.2:p.Leu824Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3783,
          "referenceAllele": "T",
          "start": 3782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Leu1099Ile",
        "hgvsWellDefined": "ENSP00000351790.5:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3482,
          "referenceAllele": "T",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Leu1099Ile",
        "hgvsWellDefined": "ENSP00000441668.2:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3891,
          "referenceAllele": "T",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2413T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Leu805Ile",
        "hgvsWellDefined": "ENSP00000480757.1:p.Leu805Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3482,
          "referenceAllele": "T",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Leu1099Ile",
        "hgvsWellDefined": "NP_001243196.1:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3891,
          "referenceAllele": "T",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2413T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Leu805Ile",
        "hgvsWellDefined": "NP_001243197.1:p.Leu805Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3587,
          "referenceAllele": "T",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3295T>A",
        "LRG_410t1:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Leu1099Ile",
        "hgvsWellDefined": "NP_115967.2:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "T",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2722T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3424,
          "referenceAllele": "T",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3424T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3571,
          "referenceAllele": "T",
          "start": 3570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3349T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Leu1117Ile",
        "hgvsWellDefined": "XP_006718106.1:p.Leu1117Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3326,
          "referenceAllele": "T",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3325T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Leu1109Ile",
        "hgvsWellDefined": "XP_011538594.1:p.Leu1109Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 101,
          "referenceAllele": "A",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 102
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-102A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3373T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Leu1125Ile",
        "hgvsWellDefined": "XP_016872322.1:p.Leu1125Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3382,
          "referenceAllele": "T",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Leu1099Ile",
        "hgvsWellDefined": "XP_016872323.1:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2609,
          "referenceAllele": "T",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2173T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Leu725Ile",
        "hgvsWellDefined": "XP_024304004.1:p.Leu725Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2832,
          "referenceAllele": "T",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2832T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3369,
          "referenceAllele": "T",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3369T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3592,
          "referenceAllele": "T",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Leu1099Ile",
        "hgvsWellDefined": "NP_001243196.1:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3836,
          "referenceAllele": "T",
          "start": 3835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2413T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Leu805Ile",
        "hgvsWellDefined": "NP_001243197.1:p.Leu805Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3532,
          "referenceAllele": "T",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Leu1099Ile",
        "hgvsWellDefined": "NP_115967.2:p.Leu1099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3295T>A"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3295T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Leu1099Ile"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Leu1099Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}