{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2207696545",
  "communityStandardTitle": [
    "NM_001136472.2(LITAF):c.346T= (p.Trp116=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894521",
        "rs": 104894521
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 11553564,
          "referenceAllele": "A",
          "start": 11553563
        }
      ],
      "hgvs": [
        "NC_000016.10:g.11553564A=",
        "CM000678.2:g.11553564A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 11647420,
          "referenceAllele": "A",
          "start": 11647419
        }
      ],
      "hgvs": [
        "NC_000016.9:g.11647420A=",
        "CM000678.1:g.11647420A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 11554921,
          "referenceAllele": "A",
          "start": 11554920
        }
      ],
      "hgvs": [
        "NC_000016.8:g.11554921A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38387,
          "referenceAllele": "T",
          "start": 38386
        }
      ],
      "hgvs": [
        "NG_009008.1:g.38387T=",
        "LRG_253:g.38387T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001376"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "T",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000622633.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483114.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622633.5:c.346T="
          },
          "RefSeq": {
            "hgvs": "NM_001136472.2:c.346T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483114.1:p.Trp116="
          },
          "RefSeq": {
            "hgvs": "NP_001129944.1:p.Trp116="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "T",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000339430.9:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340118.5:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "T",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000381810.7:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371231.3:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000413364.6:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397958.2:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000570798.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458871.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000570904.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459138.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 2947,
          "referenceAllele": "T",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000571459.5:c.220+2947T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459603.1:n.220+2947T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "T",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000571627.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460743.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "T",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000571688.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459533.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "T",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000571976.1:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460133.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000572255.5:c.67T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458836.1:p.Trp23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000573332.5:c.*159T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460873.1:n.*159T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000574701.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458981.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "T",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000574763.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461813.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "T",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000575426.1:c.165T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000576036.5:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461667.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "T",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000620789.4:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481589.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000622633.4:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483114.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NM_001136472.1:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129944.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NM_001136473.1:c.346T=",
        "LRG_253t1:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129945.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082815146",
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "T",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NM_004862.3:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004853.2:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NR_024320.1:n.480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720982.2:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721045.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720983.2:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721046.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "T",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720984.2:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721047.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720985.2:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721048.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_011522754.1:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521056.1:p.Trp146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720982.3:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721045.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "T",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720983.4:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721046.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720984.4:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721047.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_006720985.3:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721048.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_011522754.3:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521056.1:p.Trp146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_017023896.1:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016879385.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "T",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NM_001136472.2:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129944.1:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622633.5:c.346T="
          },
          "RefSeq": {
            "hgvs": "NM_001136472.2:c.346T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483114.1:p.Trp116="
          },
          "RefSeq": {
            "hgvs": "NP_001129944.1:p.Trp116="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082815146",
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NM_004862.4:c.346T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004853.2:p.Trp116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NR_024320.2:n.480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730187"
    }
  ],
  "type": "nucleotide"
}