{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3577076",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5729308",
        "active": true,
        "id": "COSM5729308"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5729309",
        "active": true,
        "id": "COSM5729309"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=521573[alleleid]",
        "alleleId": 521573,
        "preferredName": "NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524698",
        "RCV": [
          "RCV003231550"
        ],
        "variationId": 524698
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176636767-C-T",
        "id": "5-176636767-C-T",
        "variant": "5:176636767 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176636767C>T?assembly=hg19",
        "id": "chr5:g.176636767C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177209766C>T?assembly=hg38",
        "id": "chr5:g.177209766C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775730406",
        "rs": 775730406
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176636767-C-T?dataset=gnomad_r2_1",
        "id": "5-176636767-C-T",
        "variant": "5:176636767 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177209766-C-T?dataset=gnomad_r4",
        "id": "5-177209766-C-T",
        "variant": "5:177209766 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 177209766,
          "referenceAllele": "C",
          "start": 177209765
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177209766C>T",
        "CM000667.2:g.177209766C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176636767,
          "referenceAllele": "C",
          "start": 176636766
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176636767C>T",
        "CM000667.1:g.176636767C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176569373,
          "referenceAllele": "C",
          "start": 176569372
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176569373C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81688,
          "referenceAllele": "C",
          "start": 81687
        }
      ],
      "hgvs": [
        "NG_009821.1:g.81688C>T",
        "LRG_512:g.81688C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Pro165Leu",
        "hgvsWellDefined": "ENSP00000423372.3:p.Pro165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Pro165Leu",
        "hgvsWellDefined": "ENSP00000343209.5:p.Pro165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Pro165Leu",
        "hgvsWellDefined": "ENSP00000346111.5:p.Pro165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.6:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.2:p.Pro165Leu",
        "hgvsWellDefined": "ENSP00000423372.2:p.Pro165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 5474,
          "referenceAllele": "C",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 5473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.612+5474C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.3:c.311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.3:p.Pro104Leu",
        "hgvsWellDefined": "ENSP00000492679.3:p.Pro104Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000644863.2:c.311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496157.2:p.Pro104Leu",
        "hgvsWellDefined": "ENSP00000496157.2:p.Pro104Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.950C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Pro165Leu",
        "hgvsWellDefined": "ENSP00000510020.1:p.Pro165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Pro353Leu",
        "hgvsWellDefined": "ENSP00000508426.1:p.Pro353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.764C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Pro456Leu",
        "hgvsWellDefined": "ENSP00000509594.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Pro165Leu",
        "hgvsWellDefined": "ENSP00000509711.1:p.Pro165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.1514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Pro456Leu",
        "hgvsWellDefined": "ENSP00000395929.2:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.1367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.1367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Pro456Leu"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Pro456Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.2:c.*460C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.2:n.*460C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000644863.1:c.*676C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496157.1:n.*676C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Pro187Leu",
        "hgvsWellDefined": "ENSP00000343209.4:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Pro187Leu",
        "hgvsWellDefined": "ENSP00000346111.4:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1412,
          "referenceAllele": "C",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Pro456Leu",
        "hgvsWellDefined": "ENSP00000395929.2:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809160",
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.1367C>T",
        "LRG_512t1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Pro456Leu",
        "hgvsWellDefined": "NP_071900.2:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Pro187Leu",
        "hgvsWellDefined": "NP_758859.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_005266016.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Pro187Leu",
        "hgvsWellDefined": "XP_005266017.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Pro187Leu",
        "hgvsWellDefined": "XP_005266018.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_011532912.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_011532913.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.947C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Pro316Leu",
        "hgvsWellDefined": "XP_011532914.1:p.Pro316Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.311C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Pro104Leu",
        "hgvsWellDefined": "XP_011532915.1:p.Pro104Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_011532916.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_011532917.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_011532918.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Pro187Leu",
        "hgvsWellDefined": "NP_001352613.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_024301918.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_024301919.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_024301920.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_024301921.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.947C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Pro316Leu",
        "hgvsWellDefined": "XP_024301922.1:p.Pro316Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Pro187Leu",
        "hgvsWellDefined": "XP_024301923.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Pro187Leu",
        "hgvsWellDefined": "XP_024301924.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Pro187Leu",
        "hgvsWellDefined": "XP_024301926.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 538,
          "referenceAllele": "C",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.311C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Pro104Leu",
        "hgvsWellDefined": "XP_024301927.1:p.Pro104Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_024301928.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Pro456Leu",
        "hgvsWellDefined": "XP_024301929.1:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.-2629C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:n.-2629C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809160",
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Pro456Leu",
        "hgvsWellDefined": "NP_071900.2:p.Pro456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.1367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.1367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Pro456Leu"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Pro456Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.560C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Pro187Leu",
        "hgvsWellDefined": "NP_758859.1:p.Pro187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}