{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372068284",
  "communityStandardTitle": [
    "NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513582[alleleid]",
        "alleleId": 513582,
        "preferredName": "NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522955",
        "RCV": [
          "RCV000626152"
        ],
        "variationId": 522955
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.116617153C>A?assembly=hg19",
        "id": "chr8:g.116617153C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.115604926C>A?assembly=hg38",
        "id": "chr8:g.115604926C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554596418",
        "rs": 1554596418
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 115604926,
          "referenceAllele": "C",
          "start": 115604925
        }
      ],
      "hgvs": [
        "NC_000008.11:g.115604926C>A",
        "CM000670.2:g.115604926C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 116617153,
          "referenceAllele": "C",
          "start": 116617152
        }
      ],
      "hgvs": [
        "NC_000008.10:g.116617153C>A",
        "CM000670.1:g.116617153C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 116686328,
          "referenceAllele": "C",
          "start": 116686327
        }
      ],
      "hgvs": [
        "NC_000008.9:g.116686328C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69076,
          "referenceAllele": "G",
          "start": 69075
        }
      ],
      "hgvs": [
        "NG_012383.3:g.69076G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.8:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Cys348Phe",
        "hgvsWellDefined": "ENSP00000379065.3:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.1043G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.1043G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Cys348Phe"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Cys348Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000640765.1:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492037.1:p.Cys335Phe",
        "hgvsWellDefined": "ENSP00000492037.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000220888.9:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220888.5:p.Cys335Phe",
        "hgvsWellDefined": "ENSP00000220888.5:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.7:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Cys348Phe",
        "hgvsWellDefined": "ENSP00000379065.3:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000517323.2:c.1016G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430803.2:p.Cys339Phe",
        "hgvsWellDefined": "ENSP00000430803.2:p.Cys339Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519076.5:c.866G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428910.1:p.Cys289Phe",
        "hgvsWellDefined": "ENSP00000428910.1:p.Cys289Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "G",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519674.1:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429174.1:p.Cys335Phe",
        "hgvsWellDefined": "ENSP00000429174.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000520276.5:c.1016G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428680.1:p.Cys339Phe",
        "hgvsWellDefined": "ENSP00000428680.1:p.Cys339Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826672844",
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.2:c.1016G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Cys339Phe",
        "hgvsWellDefined": "NP_001269831.1:p.Cys339Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673282",
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.2:c.1022G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Cys341Phe",
        "hgvsWellDefined": "NP_001269832.1:p.Cys341Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807177",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.4:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Cys348Phe",
        "hgvsWellDefined": "NP_054831.2:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_005251049.2:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251106.1:p.Cys335Phe",
        "hgvsWellDefined": "XP_005251106.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_006716625.1:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716688.1:p.Cys348Phe",
        "hgvsWellDefined": "XP_006716688.1:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.1:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Cys348Phe",
        "hgvsWellDefined": "XP_011515566.1:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517265.1:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515567.1:p.Cys348Phe",
        "hgvsWellDefined": "XP_011515567.1:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1400,
          "referenceAllele": "G",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.1:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Cys348Phe",
        "hgvsWellDefined": "XP_011515568.1:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517267.1:c.1022G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515569.1:p.Cys341Phe",
        "hgvsWellDefined": "XP_011515569.1:p.Cys341Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.1:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Cys335Phe",
        "hgvsWellDefined": "XP_011515570.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334575",
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "G",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.1:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Cys335Phe",
        "hgvsWellDefined": "NP_001317528.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.2:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Cys348Phe",
        "hgvsWellDefined": "XP_011515566.1:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.3:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Cys348Phe",
        "hgvsWellDefined": "XP_011515568.1:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "G",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.2:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Cys335Phe",
        "hgvsWellDefined": "XP_011515570.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826672844",
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.3:c.1016G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Cys339Phe",
        "hgvsWellDefined": "NP_001269831.1:p.Cys339Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673282",
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "G",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.3:c.1022G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Cys341Phe",
        "hgvsWellDefined": "NP_001269832.1:p.Cys341Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334575",
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.2:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Cys335Phe",
        "hgvsWellDefined": "NP_001317528.1:p.Cys335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807177",
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.5:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Cys348Phe",
        "hgvsWellDefined": "NP_054831.2:p.Cys348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.1043G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.1043G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Cys348Phe"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Cys348Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}