{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397586469",
  "communityStandardTitle": [
    "NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=671985[alleleid]",
        "alleleId": 671985,
        "preferredName": "NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/684388",
        "RCV": [
          "RCV000844851"
        ],
        "variationId": 684388
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1675285C>T?assembly=hg19",
        "id": "chr17:g.1675285C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1771991C>T?assembly=hg38",
        "id": "chr17:g.1771991C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1597352358",
        "rs": 1597352358
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 1771991,
          "referenceAllele": "C",
          "start": 1771990
        }
      ],
      "hgvs": [
        "NC_000017.11:g.1771991C>T",
        "CM000679.2:g.1771991C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 1675285,
          "referenceAllele": "C",
          "start": 1675284
        }
      ],
      "hgvs": [
        "NC_000017.10:g.1675285C>T",
        "CM000679.1:g.1675285C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 1622035,
          "referenceAllele": "C",
          "start": 1622034
        }
      ],
      "hgvs": [
        "NC_000017.9:g.1622035C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15027,
          "referenceAllele": "C",
          "start": 15026
        }
      ],
      "hgvs": [
        "NG_028180.1:g.15027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004118"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.9:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:p.Gln187Ter",
        "hgvsWellDefined": "ENSP00000254722.4:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.559C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.559C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:p.Gln187Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:p.Gln187Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.8:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:p.Gln187Ter",
        "hgvsWellDefined": "ENSP00000254722.4:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000570820.1:n.779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000572048.1:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458484.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000573763.1:c.-43C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461405.1:n.-43C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000576406.5:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461214.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000529",
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.5:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Gln187Ter",
        "hgvsWellDefined": "NP_002606.3:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827274773",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:p.Gln187Ter",
        "hgvsWellDefined": "NP_001316832.1:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.1:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329905.1:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316834.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000529",
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.6:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Gln187Ter",
        "hgvsWellDefined": "NP_002606.3:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000529",
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.7:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Gln187Ter",
        "hgvsWellDefined": "NP_002606.3:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.559C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.559C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:p.Gln187Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:p.Gln187Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827274773",
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.2:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:p.Gln187Ter",
        "hgvsWellDefined": "NP_001316832.1:p.Gln187_Pro418delinsMetLysGlyLysLeuAlaArgSerThrLysGluIleProAspGluIleSerIleLeuLeuLeuGlyValAlaHisPheLysGlyGlnTrpValThrLysPheAspSerArgLysThrSerLeuGluAspPheTyrLeuAspGluGluArgThrValArgValProMetMetSerAspProLysAlaValLeuArgTyrGlyLeuAspSerAspLeuSerCysLysIleAlaGlnLeuProLeuThrGlySerMetSerIleIlePhePheLeuProLeuLysValThrGlnAsnLeuThrLeuIleGluGluSerLeuThrSerGluPheIleHisAspIleAspArgGluLeuLysThrValGlnAlaValLeuThrValProLysLeuLysLeuSerTyrGluGlyGluValThrLysSerLeuGlnGluMetLysLeuGlnSerLeuPheAspSerProAspPheSerLysIleThrGlyLysProIleLysLeuThrGlnValGluHisArgAlaGlyPheGluTrpAsnGluAspGlyAlaGlyThrThrProSerProGlyLeuGlnProAlaHisLeuThrPheProLeuAspTyrHisLeuAsnGlnProPheIlePheValLeuArgAspThrAspThrGlyAlaLeuLeuPheIleGlyLysIleLeuAspProArgGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.2:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329905.2:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316834.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718576"
    }
  ],
  "type": "nucleotide"
}