{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA361742226", "communityStandardTitle": [ "NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2904721[alleleid]", "alleleId": 2904721, "preferredName": "NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734807", "RCV": [ "RCV003530929" ], "variationId": 2734807 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149776089G>A?assembly=hg19", "id": "chr5:g.149776089G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.150396526G>A?assembly=hg38", "id": "chr5:g.150396526G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2534537041", "rs": 2534537041 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 150396526, "referenceAllele": "G", "start": 150396525 } ], "hgvs": [ "NC_000005.10:g.150396526G>A", "CM000667.2:g.150396526G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149776089, "referenceAllele": "G", "start": 149776088 } ], "hgvs": [ "NC_000005.9:g.149776089G>A", "CM000667.1:g.149776089G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149756282, "referenceAllele": "G", "start": 149756281 } ], "hgvs": [ "NC_000005.8:g.149756282G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 43888, "referenceAllele": "G", "start": 43887 } ], "hgvs": [ "NG_011341.1:g.43888G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001706" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3940, "referenceAllele": "G", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.7:c.3912G>A" ], "proteinEffect": { "hgvs": "ENSP00000390717.3:p.Trp1304Ter", "hgvsWellDefined": "ENSP00000390717.3:p.Trp1304_Val1450delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755194" }, { "coordinates": [ { "allele": "A", "end": 4079, "referenceAllele": "G", "start": 4078 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000643257.2:c.4029G>A" ], "proteinEffect": { "hgvs": "ENSP00000493815.1:p.Trp1343Ter", "hgvsWellDefined": "ENSP00000493815.1:p.Trp1343_Val1489delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767180", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.4029G>A" }, "RefSeq": { "hgvs": "NM_001371623.1:c.4029G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Trp1343Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Trp1343Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3802, "referenceAllele": "G", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000650162.1:c.3684G>A" ], "proteinEffect": { "hgvs": "ENSP00000497075.1:p.Trp1228Ter", "hgvsWellDefined": "ENSP00000497075.1:p.Trp1228_Ser1359del" }, "referenceSequence": "http://reg.genome.network/refseq/RS770970" }, { "coordinates": [ { "allele": "A", "end": 3428, "referenceAllele": "G", "start": 3427 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000674413.1:c.3428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774383" }, { "coordinates": [ { "allele": "A", "end": 3870, "referenceAllele": "G", "start": 3869 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000323668.11:c.3795G>A" ], "proteinEffect": { "hgvs": "ENSP00000325223.6:p.Trp1265Ter", "hgvsWellDefined": "ENSP00000325223.6:p.Trp1265_Val1411delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258237" }, { "coordinates": [ { "allele": "A", "end": 4134, "referenceAllele": "G", "start": 4133 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000377797.7:c.4026G>A" ], "proteinEffect": { "hgvs": "ENSP00000367028.4:p.Trp1342Ter", "hgvsWellDefined": "ENSP00000367028.4:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271737" }, { "coordinates": [ { "allele": "A", "end": 3940, "referenceAllele": "G", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.6:c.3912G>A" ], "proteinEffect": { "hgvs": "ENSP00000390717.2:p.Trp1304Ter", "hgvsWellDefined": "ENSP00000390717.2:p.Trp1304Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289839" }, { "coordinates": [ { "allele": "A", "end": 3948, "referenceAllele": "G", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000439160.6:c.3915G>A" ], "proteinEffect": { "hgvs": "ENSP00000406888.2:p.Trp1305Ter", "hgvsWellDefined": "ENSP00000406888.2:p.Trp1305_Val1451delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295291" }, { "coordinates": [ { "allele": "A", "end": 3879, "referenceAllele": "G", "start": 3878 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000445265.6:c.3798G>A" ], "proteinEffect": { "hgvs": "ENSP00000409944.2:p.Trp1266Ter", "hgvsWellDefined": "ENSP00000409944.2:p.Trp1266_Val1412delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298204" }, { "coordinates": [ { "allele": "A", "end": 4026, "referenceAllele": "G", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000504761.6:c.4026G>A" ], "proteinEffect": { "hgvs": "ENSP00000421655.2:p.Trp1342Ter", "hgvsWellDefined": "ENSP00000421655.2:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336728" }, { "coordinates": [ { "allele": "A", "end": 4026, "referenceAllele": "G", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000513346.5:c.4026G>A" ], "proteinEffect": { "hgvs": "ENSP00000427484.1:p.Trp1342Ter", "hgvsWellDefined": "ENSP00000427484.1:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343111" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "-", "endIntronOffset": 216, "referenceAllele": "G", "start": 342, "startIntronDirection": "-", "startIntronOffset": 217 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000515516.1:c.343-217G>A" ], "proteinEffect": { "hgvs": "ENSP00000426471.1:n.343-217G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS344722" }, { "@id": "http://reg.genome.network/allele/PA2825150146", "coordinates": [ { "allele": "A", "end": 3903, "referenceAllele": "G", "start": 3902 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.3:c.3795G>A" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Trp1265Ter", "hgvsWellDefined": "NP_000347.2:p.Trp1265_Val1411delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006419" }, { "@id": "http://reg.genome.network/allele/PA2825790998", "coordinates": [ { "allele": "A", "end": 4134, "referenceAllele": "G", "start": 4133 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.1:c.4026G>A" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Trp1342Ter", "hgvsWellDefined": "NP_001128715.1:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012405" }, { "@id": "http://reg.genome.network/allele/PA2825791504", "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "G", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.1:c.3915G>A" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Trp1305Ter", "hgvsWellDefined": "NP_001128716.1:p.Trp1305_Val1451delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012406" }, { "@id": "http://reg.genome.network/allele/PA2825791988", "coordinates": [ { "allele": "A", "end": 3906, "referenceAllele": "G", "start": 3905 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.1:c.3798G>A" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Trp1266Ter", "hgvsWellDefined": "NP_001128717.1:p.Trp1266_Val1412delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012407" }, { "@id": "http://reg.genome.network/allele/PA2826198241", "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "G", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.1:c.3912G>A" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Trp1304Ter", "hgvsWellDefined": "NP_001182070.1:p.Trp1304_Val1450delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016540" }, { "coordinates": [ { "allele": "A", "end": 4185, "referenceAllele": "G", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.2:c.4140G>A" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Trp1380Ter", "hgvsWellDefined": "XP_005268559.1:p.Trp1380_Val1526delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065782" }, { "coordinates": [ { "allele": "A", "end": 4182, "referenceAllele": "G", "start": 4181 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.2:c.4137G>A" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Trp1379Ter", "hgvsWellDefined": "XP_005268560.1:p.Trp1379_Val1525delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065783" }, { "coordinates": [ { "allele": "A", "end": 4182, "referenceAllele": "G", "start": 4181 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.2:c.4137G>A" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Trp1379Ter", "hgvsWellDefined": "XP_005268561.1:p.Trp1379_Val1525delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065784" }, { "coordinates": [ { "allele": "A", "end": 4074, "referenceAllele": "G", "start": 4073 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.2:c.4029G>A" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Trp1343Ter", "hgvsWellDefined": "XP_005268562.1:p.Trp1343_Val1489delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065785" }, { "coordinates": [ { "allele": "A", "end": 4071, "referenceAllele": "G", "start": 4070 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.2:c.4026G>A" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Trp1342Ter", "hgvsWellDefined": "XP_005268563.1:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065786" }, { "coordinates": [ { "allele": "A", "end": 3954, "referenceAllele": "G", "start": 3953 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.2:c.3909G>A" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Trp1303Ter", "hgvsWellDefined": "XP_005268564.1:p.Trp1303_Val1449delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065787" }, { "coordinates": [ { "allele": "A", "end": 4005, "referenceAllele": "G", "start": 4004 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.1:c.3960G>A" ], "proteinEffect": { "hgvs": "XP_011535980.1:p.Trp1320Ter", "hgvsWellDefined": "XP_011535980.1:p.Trp1320_Val1466delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104641" }, { "coordinates": [ { "allele": "A", "end": 4187, "referenceAllele": "G", "start": 4186 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.4:c.4140G>A" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Trp1380Ter", "hgvsWellDefined": "XP_005268559.1:p.Trp1380_Val1526delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536594" }, { "coordinates": [ { "allele": "A", "end": 4184, "referenceAllele": "G", "start": 4183 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.4:c.4137G>A" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Trp1379Ter", "hgvsWellDefined": "XP_005268560.1:p.Trp1379_Val1525delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536595" }, { "coordinates": [ { "allele": "A", "end": 4184, "referenceAllele": "G", "start": 4183 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.4:c.4137G>A" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Trp1379Ter", "hgvsWellDefined": "XP_005268561.1:p.Trp1379_Val1525delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536596" }, { "coordinates": [ { "allele": "A", "end": 4076, "referenceAllele": "G", "start": 4075 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.4:c.4029G>A" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Trp1343Ter", "hgvsWellDefined": "XP_005268562.1:p.Trp1343_Val1489delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536597" }, { "coordinates": [ { "allele": "A", "end": 4073, "referenceAllele": "G", "start": 4072 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.4:c.4026G>A" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Trp1342Ter", "hgvsWellDefined": "XP_005268563.1:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536598" }, { "coordinates": [ { "allele": "A", "end": 3956, "referenceAllele": "G", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.4:c.3909G>A" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Trp1303Ter", "hgvsWellDefined": "XP_005268564.1:p.Trp1303_Val1449delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536599" }, { "coordinates": [ { "allele": "A", "end": 4007, "referenceAllele": "G", "start": 4006 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.3:c.3960G>A" ], "proteinEffect": { "hgvs": "XP_011535980.1:p.Trp1320Ter", "hgvsWellDefined": "XP_011535980.1:p.Trp1320_Val1466delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552983" }, { "coordinates": [ { "allele": "A", "end": 4070, "referenceAllele": "G", "start": 4069 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009792.2:c.4023G>A" ], "proteinEffect": { "hgvs": "XP_016865281.1:p.Trp1341Ter", "hgvsWellDefined": "XP_016865281.1:p.Trp1341_Val1487delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564009" }, { "coordinates": [ { "allele": "A", "end": 3896, "referenceAllele": "G", "start": 3895 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009793.2:c.3849G>A" ], "proteinEffect": { "hgvs": "XP_016865282.1:p.Trp1283Ter", "hgvsWellDefined": "XP_016865282.1:p.Trp1283_Val1429delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564010" }, { "coordinates": [ { "allele": "A", "end": 3782, "referenceAllele": "G", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009794.2:c.3735G>A" ], "proteinEffect": { "hgvs": "XP_016865283.1:p.Trp1245Ter", "hgvsWellDefined": "XP_016865283.1:p.Trp1245_Val1391delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564011" }, { "coordinates": [ { "allele": "A", "end": 4146, "referenceAllele": "G", "start": 4145 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.3:n.4146G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606481" }, { "coordinates": [ { "allele": "A", "end": 4035, "referenceAllele": "G", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.3:n.4035G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606483" }, { "@id": "http://reg.genome.network/allele/PA2825150146", "coordinates": [ { "allele": "A", "end": 3845, "referenceAllele": "G", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.4:c.3795G>A" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Trp1265Ter", "hgvsWellDefined": "NP_000347.2:p.Trp1265_Val1411delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674805" }, { "@id": "http://reg.genome.network/allele/PA2825791504", "coordinates": [ { "allele": "A", "end": 3965, "referenceAllele": "G", "start": 3964 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.2:c.3915G>A" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Trp1305Ter", "hgvsWellDefined": "NP_001128716.1:p.Trp1305_Val1451delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677300" }, { "@id": "http://reg.genome.network/allele/PA2825791988", "coordinates": [ { "allele": "A", "end": 3848, "referenceAllele": "G", "start": 3847 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.2:c.3798G>A" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Trp1266Ter", "hgvsWellDefined": "NP_001128717.1:p.Trp1266_Val1412delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677301" }, { "@id": "http://reg.genome.network/allele/PA2826198241", "coordinates": [ { "allele": "A", "end": 3962, "referenceAllele": "G", "start": 3961 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.2:c.3912G>A" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Trp1304Ter", "hgvsWellDefined": "NP_001182070.1:p.Trp1304_Val1450delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679284" }, { "@id": "http://reg.genome.network/allele/PA2741869114", "coordinates": [ { "allele": "A", "end": 4079, "referenceAllele": "G", "start": 4078 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.4029G>A" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Trp1343Ter", "hgvsWellDefined": "NP_001358552.1:p.Trp1343_Val1489delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.4029G>A" }, "RefSeq": { "hgvs": "NM_001371623.1:c.4029G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Trp1343Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Trp1343Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825790998", "coordinates": [ { "allele": "A", "end": 4076, "referenceAllele": "G", "start": 4075 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.4026G>A" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Trp1342Ter", "hgvsWellDefined": "NP_001128715.1:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }