{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6884211",
  "communityStandardTitle": [
    "NM_025215.6(PUS1):c.649G>A (p.Val217Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=869545[alleleid]",
        "alleleId": 869545,
        "preferredName": "NM_025215.6(PUS1):c.649G>A (p.Val217Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/883357",
        "RCV": [
          "RCV001113696",
          "RCV001575667"
        ],
        "variationId": 883357
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-132425941-G-A",
        "id": "12-132425941-G-A",
        "variant": "12:132425941 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.132425941G>A?assembly=hg19",
        "id": "chr12:g.132425941G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.131941396G>A?assembly=hg38",
        "id": "chr12:g.131941396G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200591614",
        "rs": 200591614
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-132425941-G-A?dataset=gnomad_r2_1",
        "id": "12-132425941-G-A",
        "variant": "12:132425941 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-131941396-G-A?dataset=gnomad_r3",
        "id": "12-131941396-G-A",
        "variant": "12:131941396 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-131941396-G-A?dataset=gnomad_r4",
        "id": "12-131941396-G-A",
        "variant": "12:131941396 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 131941396,
          "referenceAllele": "G",
          "start": 131941395
        }
      ],
      "hgvs": [
        "NC_000012.12:g.131941396G>A",
        "CM000674.2:g.131941396G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 132425941,
          "referenceAllele": "G",
          "start": 132425940
        }
      ],
      "hgvs": [
        "NC_000012.11:g.132425941G>A",
        "CM000674.1:g.132425941G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 130991894,
          "referenceAllele": "G",
          "start": 130991893
        }
      ],
      "hgvs": [
        "NC_000012.10:g.130991894G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17197,
          "referenceAllele": "G",
          "start": 17196
        }
      ],
      "hgvs": [
        "NG_013039.1:g.17197G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002683"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000376649.8:c.649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365837.3:p.Val217Ile",
        "hgvsWellDefined": "ENSP00000365837.3:p.Val217Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376649.8:c.649G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025215.6:c.649G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365837.3:p.Val217Ile"
          },
          "RefSeq": {
            "hgvs": "NP_079491.2:p.Val217Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000322060.9:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324726.5:p.Val189Ile",
        "hgvsWellDefined": "ENSP00000324726.5:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000376649.7:c.649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365837.3:p.Val217Ile",
        "hgvsWellDefined": "ENSP00000365837.3:p.Val217Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000443358.6:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392451.2:p.Val189Ile",
        "hgvsWellDefined": "ENSP00000392451.2:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "endIntronDirection": "-",
          "endIntronOffset": 2142,
          "referenceAllele": "G",
          "start": 519,
          "startIntronDirection": "-",
          "startIntronOffset": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000535067.5:c.358-2143G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443969.1:n.358-2143G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000537484.1:c.574G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440179.1:p.Val192Ile",
        "hgvsWellDefined": "ENSP00000440179.1:p.Val192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000542167.2:c.490G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438948.1:p.Val164Ile",
        "hgvsWellDefined": "ENSP00000438948.1:p.Val164Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "ENST00000543754.1:n.470G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825242454",
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_001002019.2:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002019.1:p.Val189Ile",
        "hgvsWellDefined": "NP_001002019.1:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825243276",
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_001002020.2:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002020.1:p.Val189Ile",
        "hgvsWellDefined": "NP_001002020.1:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763006",
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_025215.5:c.649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079491.2:p.Val217Ile",
        "hgvsWellDefined": "NP_079491.2:p.Val217Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "XM_011538768.1:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537070.1:p.Val84Ile",
        "hgvsWellDefined": "XP_011537070.1:p.Val84Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "XM_011538768.3:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537070.1:p.Val84Ile",
        "hgvsWellDefined": "XP_011537070.1:p.Val84Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "XR_001748872.1:n.1104G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825242454",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_001002019.3:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002019.1:p.Val189Ile",
        "hgvsWellDefined": "NP_001002019.1:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825243276",
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_001002020.3:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002020.1:p.Val189Ile",
        "hgvsWellDefined": "NP_001002020.1:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763006",
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_025215.6:c.649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079491.2:p.Val217Ile",
        "hgvsWellDefined": "NP_079491.2:p.Val217Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376649.8:c.649G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025215.6:c.649G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365837.3:p.Val217Ile"
          },
          "RefSeq": {
            "hgvs": "NP_079491.2:p.Val217Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}