{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397433083",
  "communityStandardTitle": [
    "NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513639[alleleid]",
        "alleleId": 513639,
        "preferredName": "NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522948",
        "RCV": [
          "RCV000626145"
        ],
        "variationId": 522948
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89713646C>T?assembly=hg19",
        "id": "chr16:g.89713646C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89647238C>T?assembly=hg38",
        "id": "chr16:g.89647238C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794609",
        "rs": 1064794609
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89713646-C-T?dataset=gnomad_r2_1",
        "id": "16-89713646-C-T",
        "variant": "16:89713646 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89647238-C-T?dataset=gnomad_r4",
        "id": "16-89647238-C-T",
        "variant": "16:89647238 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89647238,
          "referenceAllele": "C",
          "start": 89647237
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89647238C>T",
        "CM000678.2:g.89647238C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89713646,
          "referenceAllele": "C",
          "start": 89713645
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89713646C>T",
        "CM000678.1:g.89713646C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88241147,
          "referenceAllele": "C",
          "start": 88241146
        }
      ],
      "hgvs": [
        "NC_000016.8:g.88241147C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15548,
          "referenceAllele": "G",
          "start": 15547
        }
      ],
      "hgvs": [
        "NG_033005.1:g.15548G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15548,
          "referenceAllele": "G",
          "start": 15547
        }
      ],
      "hgvs": [
        "NG_033005.2:g.15548G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673876"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000397901.8:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380998.3:p.Glu116Lys",
        "hgvsWellDefined": "ENSP00000380998.3:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397901.8:c.346G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002768.5:c.346G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380998.3:p.Glu116Lys"
          },
          "RefSeq": {
            "hgvs": "NP_002759.2:p.Glu116Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000535997.7:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442120.3:p.Glu116Lys",
        "hgvsWellDefined": "ENSP00000442120.3:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000547687.2:n.606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000549328.2:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447899.1:p.Glu116Lys",
        "hgvsWellDefined": "ENSP00000447899.1:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000551981.6:n.433G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000674799.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502267.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000502267.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675016.1:c.*1670G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502282.1:n.*1670G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675076.1:n.342G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675161.1:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501615.1:p.Glu116Lys",
        "hgvsWellDefined": "ENSP00000501615.1:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675309.1:c.*219G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502291.1:n.*219G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675536.1:c.401G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501759.1:p.Arg134Gln",
        "hgvsWellDefined": "ENSP00000501759.1:p.Arg134Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675778.1:c.199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502825.1:p.Glu67Lys",
        "hgvsWellDefined": "ENSP00000502825.1:p.Glu67Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675909.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502022.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000502022.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000675952.1:n.615G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000676118.1:c.*263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501619.1:n.*263G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000676342.1:n.1804G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000676355.1:c.355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502147.1:p.Glu119Lys",
        "hgvsWellDefined": "ENSP00000502147.1:p.Glu119Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000676402.1:c.*341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501794.1:n.*341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000397901.7:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380998.3:p.Glu116Lys",
        "hgvsWellDefined": "ENSP00000380998.3:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000535997.6:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442120.2:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000442120.2:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000547614.5:n.459G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000548650.1:n.283G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000549139.5:n.337G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000549328.1:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447899.1:p.Glu116Lys",
        "hgvsWellDefined": "ENSP00000447899.1:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000550102.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449243.1:p.Glu107Lys",
        "hgvsWellDefined": "ENSP00000449243.1:p.Glu107Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "ENST00000551981.5:n.363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485892",
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "NM_001083314.3:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076783.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_001076783.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805454",
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "NM_002768.4:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002759.2:p.Glu116Lys",
        "hgvsWellDefined": "NP_002759.2:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "NR_046418.2:n.543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "XM_011523099.1:c.671G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521401.1:p.Arg224Gln",
        "hgvsWellDefined": "XP_011521401.1:p.Arg224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805454",
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "NM_002768.5:c.346G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002759.2:p.Glu116Lys",
        "hgvsWellDefined": "NP_002759.2:p.Glu116Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397901.8:c.346G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002768.5:c.346G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380998.3:p.Glu116Lys"
          },
          "RefSeq": {
            "hgvs": "NP_002759.2:p.Glu116Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485892",
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "NM_001083314.4:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076783.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_001076783.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008740",
      "geneNCBI_id": 5119,
      "geneSymbol": "CHMP1A",
      "hgvs": [
        "NR_046418.3:n.466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702493"
    }
  ],
  "type": "nucleotide"
}