{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372064246",
  "communityStandardTitle": [
    "NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1443021[alleleid]",
        "alleleId": 1443021,
        "preferredName": "NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1345055",
        "RCV": [
          "RCV002034894"
        ],
        "variationId": 1345055
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.116430595A>C?assembly=hg19",
        "id": "chr8:g.116430595A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.115418367A>C?assembly=hg38",
        "id": "chr8:g.115418367A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2129768696",
        "rs": 2129768696
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 115418367,
          "referenceAllele": "A",
          "start": 115418366
        }
      ],
      "hgvs": [
        "NC_000008.11:g.115418367A>C",
        "CM000670.2:g.115418367A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 116430595,
          "referenceAllele": "A",
          "start": 116430594
        }
      ],
      "hgvs": [
        "NC_000008.10:g.116430595A>C",
        "CM000670.1:g.116430595A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 116499771,
          "referenceAllele": "A",
          "start": 116499770
        }
      ],
      "hgvs": [
        "NC_000008.9:g.116499771A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255635,
          "referenceAllele": "T",
          "start": 255634
        }
      ],
      "hgvs": [
        "NG_012383.3:g.255635T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3338,
          "referenceAllele": "T",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.8:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Val929Gly",
        "hgvsWellDefined": "ENSP00000379065.3:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.2786T>G"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.2786T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Val929Gly"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Val929Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2888,
          "referenceAllele": "T",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000640765.1:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492037.1:p.Val916Gly",
        "hgvsWellDefined": "ENSP00000492037.1:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2907,
          "referenceAllele": "T",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000220888.9:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220888.5:p.Val916Gly",
        "hgvsWellDefined": "ENSP00000220888.5:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3364,
          "referenceAllele": "T",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.7:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Val929Gly",
        "hgvsWellDefined": "ENSP00000379065.3:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120,
          "referenceAllele": "T",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000518018.1:c.120T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2021,
          "referenceAllele": "T",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519076.5:c.2009T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428910.1:p.Val670Gly",
        "hgvsWellDefined": "ENSP00000428910.1:p.Val670Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2883,
          "referenceAllele": "T",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000520276.5:c.2759T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428680.1:p.Val920Gly",
        "hgvsWellDefined": "ENSP00000428680.1:p.Val920Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673069",
      "coordinates": [
        {
          "allele": "G",
          "end": 2888,
          "referenceAllele": "T",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.2:c.2759T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Val920Gly",
        "hgvsWellDefined": "NP_001269831.1:p.Val920Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673507",
      "coordinates": [
        {
          "allele": "G",
          "end": 3377,
          "referenceAllele": "T",
          "start": 3376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.2:c.2765T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Val922Gly",
        "hgvsWellDefined": "NP_001269832.1:p.Val922Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573258008",
      "coordinates": [
        {
          "allele": "G",
          "end": 3391,
          "referenceAllele": "T",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.4:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Val929Gly",
        "hgvsWellDefined": "NP_054831.2:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3206,
          "referenceAllele": "T",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_005251049.2:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251106.1:p.Val916Gly",
        "hgvsWellDefined": "XP_005251106.1:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3328,
          "referenceAllele": "T",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_006716625.1:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716688.1:p.Val929Gly",
        "hgvsWellDefined": "XP_006716688.1:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3461,
          "referenceAllele": "T",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.1:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Val929Gly",
        "hgvsWellDefined": "XP_011515566.1:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3600,
          "referenceAllele": "T",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517265.1:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515567.1:p.Val929Gly",
        "hgvsWellDefined": "XP_011515567.1:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3143,
          "referenceAllele": "T",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.1:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Val929Gly",
        "hgvsWellDefined": "XP_011515568.1:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3314,
          "referenceAllele": "T",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517267.1:c.2765T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515569.1:p.Val922Gly",
        "hgvsWellDefined": "XP_011515569.1:p.Val922Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3303,
          "referenceAllele": "T",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.1:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Val916Gly",
        "hgvsWellDefined": "XP_011515570.1:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334815",
      "coordinates": [
        {
          "allele": "G",
          "end": 3233,
          "referenceAllele": "T",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.1:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Val916Gly",
        "hgvsWellDefined": "NP_001317528.1:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3532,
          "referenceAllele": "T",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.2:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Val929Gly",
        "hgvsWellDefined": "XP_011515566.1:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3200,
          "referenceAllele": "T",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.3:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Val929Gly",
        "hgvsWellDefined": "XP_011515568.1:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3374,
          "referenceAllele": "T",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.2:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Val916Gly",
        "hgvsWellDefined": "XP_011515570.1:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673069",
      "coordinates": [
        {
          "allele": "G",
          "end": 2889,
          "referenceAllele": "T",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.3:c.2759T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Val920Gly",
        "hgvsWellDefined": "NP_001269831.1:p.Val920Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673507",
      "coordinates": [
        {
          "allele": "G",
          "end": 3324,
          "referenceAllele": "T",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.3:c.2765T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Val922Gly",
        "hgvsWellDefined": "NP_001269832.1:p.Val922Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334815",
      "coordinates": [
        {
          "allele": "G",
          "end": 3180,
          "referenceAllele": "T",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.2:c.2747T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Val916Gly",
        "hgvsWellDefined": "NP_001317528.1:p.Val916Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573258008",
      "coordinates": [
        {
          "allele": "G",
          "end": 3338,
          "referenceAllele": "T",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.5:c.2786T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Val929Gly",
        "hgvsWellDefined": "NP_054831.2:p.Val929Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.2786T>G"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.2786T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Val929Gly"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Val929Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}