{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376858937",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3309G>T (p.Glu1103Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959148G>T?assembly=hg19",
        "id": "chr10:g.69959148G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199391G>T?assembly=hg38",
        "id": "chr10:g.68199391G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 68199391,
          "referenceAllele": "G",
          "start": 68199390
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199391G>T",
        "CM000672.2:g.68199391G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69959148,
          "referenceAllele": "G",
          "start": 69959147
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959148G>T",
        "CM000672.1:g.69959148G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 69629154,
          "referenceAllele": "G",
          "start": 69629153
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629154G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98275,
          "referenceAllele": "G",
          "start": 98274
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98275G>T",
        "LRG_410:g.98275G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2734,
          "referenceAllele": "G",
          "start": 2733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2484G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Glu828Asp",
        "hgvsWellDefined": "ENSP00000346369.2:p.Glu828Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3364,
          "referenceAllele": "G",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3363G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Glu1121Asp",
        "hgvsWellDefined": "ENSP00000441668.3:p.Glu1121Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Glu1103Asp",
        "hgvsWellDefined": "ENSP00000480757.2:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3200,
          "referenceAllele": "G",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*572G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*572G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3667,
          "referenceAllele": "G",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2580G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2580G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3546,
          "referenceAllele": "G",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Glu1103Asp",
        "hgvsWellDefined": "ENSP00000351790.5:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3309G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3309G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Glu1103Asp"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Glu1103Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "G",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2484G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Glu828Asp",
        "hgvsWellDefined": "ENSP00000346369.2:p.Glu828Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3797,
          "referenceAllele": "G",
          "start": 3796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Glu1103Asp",
        "hgvsWellDefined": "ENSP00000351790.5:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3496,
          "referenceAllele": "G",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Glu1103Asp",
        "hgvsWellDefined": "ENSP00000441668.2:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3905,
          "referenceAllele": "G",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Glu809Asp",
        "hgvsWellDefined": "ENSP00000480757.1:p.Glu809Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3496,
          "referenceAllele": "G",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Glu1103Asp",
        "hgvsWellDefined": "NP_001243196.1:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3905,
          "referenceAllele": "G",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Glu809Asp",
        "hgvsWellDefined": "NP_001243197.1:p.Glu809Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3309G>T",
        "LRG_410t1:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Glu1103Asp",
        "hgvsWellDefined": "NP_115967.2:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "G",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2736G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3438,
          "referenceAllele": "G",
          "start": 3437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3438G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3363G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Glu1121Asp",
        "hgvsWellDefined": "XP_006718106.1:p.Glu1121Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3340,
          "referenceAllele": "G",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3339G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Glu1113Asp",
        "hgvsWellDefined": "XP_011538594.1:p.Glu1113Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 116
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-116C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3937,
          "referenceAllele": "G",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3387G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Glu1129Asp",
        "hgvsWellDefined": "XP_016872322.1:p.Glu1129Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3396,
          "referenceAllele": "G",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Glu1103Asp",
        "hgvsWellDefined": "XP_016872323.1:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2623,
          "referenceAllele": "G",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2187G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Glu729Asp",
        "hgvsWellDefined": "XP_024304004.1:p.Glu729Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2846G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3383,
          "referenceAllele": "G",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3383G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3606,
          "referenceAllele": "G",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Glu1103Asp",
        "hgvsWellDefined": "NP_001243196.1:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3850,
          "referenceAllele": "G",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Glu809Asp",
        "hgvsWellDefined": "NP_001243197.1:p.Glu809Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3546,
          "referenceAllele": "G",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3309G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Glu1103Asp",
        "hgvsWellDefined": "NP_115967.2:p.Glu1103Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3309G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3309G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Glu1103Asp"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Glu1103Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}