{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376859001",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.3329G>C (p.Gly1110Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.69959168G>C?assembly=hg19",
        "id": "chr10:g.69959168G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68199411G>C?assembly=hg38",
        "id": "chr10:g.68199411G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 68199411,
          "referenceAllele": "G",
          "start": 68199410
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68199411G>C",
        "CM000672.2:g.68199411G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 69959168,
          "referenceAllele": "G",
          "start": 69959167
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69959168G>C",
        "CM000672.1:g.69959168G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 69629174,
          "referenceAllele": "G",
          "start": 69629173
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69629174G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98295,
          "referenceAllele": "G",
          "start": 98294
        }
      ],
      "hgvs": [
        "NG_032118.1:g.98295G>C",
        "LRG_410:g.98295G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2754,
          "referenceAllele": "G",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.2504G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Gly835Ala",
        "hgvsWellDefined": "ENSP00000346369.2:p.Gly835Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.3383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:p.Gly1128Ala",
        "hgvsWellDefined": "ENSP00000441668.3:p.Gly1128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3510,
          "referenceAllele": "G",
          "start": 3509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:p.Gly1110Ala",
        "hgvsWellDefined": "ENSP00000480757.2:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3220,
          "referenceAllele": "G",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.*592G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.*592G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3687,
          "referenceAllele": "G",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*2600G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*2600G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3566,
          "referenceAllele": "G",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Gly1110Ala",
        "hgvsWellDefined": "ENSP00000351790.5:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3329G>C"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3329G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Gly1110Ala"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Gly1110Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2718,
          "referenceAllele": "G",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.2504G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:p.Gly835Ala",
        "hgvsWellDefined": "ENSP00000346369.2:p.Gly835Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3817,
          "referenceAllele": "G",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:p.Gly1110Ala",
        "hgvsWellDefined": "ENSP00000351790.5:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3516,
          "referenceAllele": "G",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:p.Gly1110Ala",
        "hgvsWellDefined": "ENSP00000441668.2:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3925,
          "referenceAllele": "G",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.2447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:p.Gly816Ala",
        "hgvsWellDefined": "ENSP00000480757.1:p.Gly816Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3516,
          "referenceAllele": "G",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Gly1110Ala",
        "hgvsWellDefined": "NP_001243196.1:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3925,
          "referenceAllele": "G",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.2447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Gly816Ala",
        "hgvsWellDefined": "NP_001243197.1:p.Gly816Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3621,
          "referenceAllele": "G",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.3329G>C",
        "LRG_410t1:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Gly1110Ala",
        "hgvsWellDefined": "NP_115967.2:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2756,
          "referenceAllele": "G",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.2756G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3458,
          "referenceAllele": "G",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.3458G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3605,
          "referenceAllele": "G",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.3383G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:p.Gly1128Ala",
        "hgvsWellDefined": "XP_006718106.1:p.Gly1128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.3359G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:p.Gly1120Ala",
        "hgvsWellDefined": "XP_011538594.1:p.Gly1120Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 135,
          "referenceAllele": "C",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 136
        }
      ],
      "hgvs": [
        "XR_946029.1:n.1804-136C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3957,
          "referenceAllele": "G",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.3407G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:p.Gly1136Ala",
        "hgvsWellDefined": "XP_016872322.1:p.Gly1136Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:p.Gly1110Ala",
        "hgvsWellDefined": "XP_016872323.1:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.2207G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:p.Gly736Ala",
        "hgvsWellDefined": "XP_024304004.1:p.Gly736Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2866,
          "referenceAllele": "G",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.2866G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3403,
          "referenceAllele": "G",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.3403G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:p.Gly1110Ala",
        "hgvsWellDefined": "NP_001243196.1:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3870,
          "referenceAllele": "G",
          "start": 3869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.2447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:p.Gly816Ala",
        "hgvsWellDefined": "NP_001243197.1:p.Gly816Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3566,
          "referenceAllele": "G",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.3329G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:p.Gly1110Ala",
        "hgvsWellDefined": "NP_115967.2:p.Gly1110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.3329G>C"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.3329G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:p.Gly1110Ala"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:p.Gly1110Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}