{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA272062",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1067671",
        "active": true,
        "id": "COSM1067671"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1067672",
        "active": true,
        "id": "COSM1067672"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168382[alleleid]",
        "alleleId": 168382,
        "preferredName": "NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159082",
        "RCV": [
          "RCV000146575"
        ],
        "variationId": 159082
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37000610G>A?assembly=hg19",
        "id": "chr5:g.37000610G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37000508G>A?assembly=hg38",
        "id": "chr5:g.37000508G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783921",
        "rs": 587783921
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37000508-G-A?dataset=gnomad_r4",
        "id": "5-37000508-G-A",
        "variant": "5:37000508 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37000508,
          "referenceAllele": "G",
          "start": 37000507
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37000508G>A",
        "CM000667.2:g.37000508G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37000610,
          "referenceAllele": "G",
          "start": 37000609
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37000610G>A",
        "CM000667.1:g.37000610G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37036367,
          "referenceAllele": "G",
          "start": 37036366
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37036367G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128626,
          "referenceAllele": "G",
          "start": 128625
        }
      ],
      "hgvs": [
        "NG_006987.1:g.128626G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128626,
          "referenceAllele": "G",
          "start": 128625
        }
      ],
      "hgvs": [
        "NG_006987.2:g.128626G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3929,
          "referenceAllele": "G",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Arg1147Gln",
        "hgvsWellDefined": "ENSP00000282516.8:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.3440G>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.3440G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Arg1147Gln"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Arg1147Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3857,
          "referenceAllele": "G",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Arg1147Gln",
        "hgvsWellDefined": "ENSP00000499536.1:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "G",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Arg1147Gln",
        "hgvsWellDefined": "ENSP00000282516.8:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Arg1147Gln",
        "hgvsWellDefined": "ENSP00000406266.2:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 64069,
          "referenceAllele": "G",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 64070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-64070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-64070G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA272063",
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "G",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Arg1147Gln",
        "hgvsWellDefined": "NP_056199.2:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA272064",
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "G",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Arg1147Gln",
        "hgvsWellDefined": "NP_597677.2:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Arg1147Gln",
        "hgvsWellDefined": "XP_005248337.1:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "referenceAllele": "G",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.2696G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Arg899Gln",
        "hgvsWellDefined": "XP_005248339.2:p.Arg899Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Arg1147Gln",
        "hgvsWellDefined": "XP_006714530.1:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3792,
          "endIntronDirection": "-",
          "endIntronOffset": 308,
          "referenceAllele": "G",
          "start": 3792,
          "startIntronDirection": "-",
          "startIntronOffset": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.3305-309G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:n.3305-309G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3609,
          "endIntronDirection": "-",
          "endIntronOffset": 308,
          "referenceAllele": "G",
          "start": 3609,
          "startIntronDirection": "-",
          "startIntronOffset": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.3122-309G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:n.3122-309G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Arg1147Gln",
        "hgvsWellDefined": "XP_011512317.1:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Arg1147Gln",
        "hgvsWellDefined": "XP_005248337.1:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3429,
          "referenceAllele": "G",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.2780G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Arg927Gln",
        "hgvsWellDefined": "XP_005248339.3:p.Arg927Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3792,
          "endIntronDirection": "-",
          "endIntronOffset": 308,
          "referenceAllele": "G",
          "start": 3792,
          "startIntronDirection": "-",
          "startIntronOffset": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.3305-309G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:n.3305-309G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Arg1147Gln",
        "hgvsWellDefined": "XP_016864818.1:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3553,
          "referenceAllele": "G",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.1823G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Arg608Gln",
        "hgvsWellDefined": "XP_016864819.1:p.Arg608Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.1814G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Arg605Gln",
        "hgvsWellDefined": "XP_016864820.1:p.Arg605Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA272064",
      "coordinates": [
        {
          "allele": "A",
          "end": 3929,
          "referenceAllele": "G",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Arg1147Gln",
        "hgvsWellDefined": "NP_597677.2:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.3440G>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.3440G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Arg1147Gln"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Arg1147Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA272063",
      "coordinates": [
        {
          "allele": "A",
          "end": 3929,
          "referenceAllele": "G",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.3440G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Arg1147Gln",
        "hgvsWellDefined": "NP_056199.2:p.Arg1147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}