{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA319156", "communityStandardTitle": [ "NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202600[alleleid]", "alleleId": 202600, "preferredName": "NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207564", "RCV": [ "RCV000189754", "RCV000824347" ], "variationId": 207564 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-6640040-G-A", "id": "11-6640040-G-A", "variant": "11:6640040 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6640040G>A?assembly=hg19", "id": "chr11:g.6640040G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6618809G>A?assembly=hg38", "id": "chr11:g.6618809G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/759080581", "rs": 759080581 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-6640040-G-A?dataset=gnomad_r2_1", "id": "11-6640040-G-A", "variant": "11:6640040 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-6618809-G-A?dataset=gnomad_r4", "id": "11-6618809-G-A", "variant": "11:6618809 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6618809, "referenceAllele": "G", "start": 6618808 } ], "hgvs": [ "NC_000011.10:g.6618809G>A", "CM000673.2:g.6618809G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6640040, "referenceAllele": "G", "start": 6640039 } ], "hgvs": [ "NC_000011.9:g.6640040G>A", "CM000673.1:g.6640040G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6596616, "referenceAllele": "G", "start": 6596615 } ], "hgvs": [ "NC_000011.8:g.6596616G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 5653, "referenceAllele": "C", "start": 5652 } ], "hgvs": [ "NG_008653.1:g.5653C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001146" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 84, "referenceAllele": "C", "start": 83 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000682424.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000507321.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000507321.1:p.Gln28_Pro525delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827415" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000299427.12:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000299427.6:p.Gln66Ter", "hgvsWellDefined": "ENSP00000299427.6:p.Gln66_Pro563delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744674", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.196C>T" }, "RefSeq": { "hgvs": "NM_000391.4:c.196C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Gln66Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Gln66Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "C", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000428886.7:n.284C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS755247" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000524788.2:n.209C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758869" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000524903.2:n.325C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758880" }, { "coordinates": [ { "allele": "T", "end": 92, "endIntronDirection": "+", "endIntronOffset": 387, "referenceAllele": "C", "start": 92, "startIntronDirection": "+", "startIntronOffset": 386 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528571.6:c.89+387C>T" ], "proteinEffect": { "hgvs": "ENSP00000434647.1:n.89+387C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759083" }, { "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "C", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528657.2:c.*383C>T" ], "proteinEffect": { "hgvs": "ENSP00000435001.1:n.*383C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759087" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000530040.2:n.225C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759157" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000531754.2:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000493706.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000493706.1:p.Gln66_Asp81delinsAlaValSerAspProSerSerProGlnTyrGlyAlaPheTrpAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759257" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000533371.6:c.-534C>T" ], "proteinEffect": { "hgvs": "ENSP00000437066.1:n.-534C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759337" }, { "coordinates": [ { "allele": "T", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000534644.6:n.197C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759406" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000642892.1:c.-481C>T" ], "proteinEffect": { "hgvs": "ENSP00000494165.1:n.-481C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766974" }, { "coordinates": [ { "allele": "T", "end": 137, "endIntronDirection": "+", "endIntronOffset": 387, "referenceAllele": "C", "start": 137, "startIntronDirection": "+", "startIntronOffset": 386 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000643439.1:c.89+387C>T" ], "proteinEffect": { "hgvs": "ENSP00000495849.1:n.89+387C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767281" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000643479.1:n.225C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767303" }, { "coordinates": [ { "allele": "T", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000643516.1:c.83C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767323" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000644151.1:n.489C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767664" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000644218.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000493574.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000493574.1:p.Gln66_Pro500delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767704" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000644683.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000494085.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000494085.1:p.Gln66_Pro162delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValTrpGlyAspCysThrValPheProGlnHisHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767938" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000644810.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000495895.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000495895.1:p.Gln66_Pro470delinsAlaValSerAspProSerSerProGlnTyrValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768009" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000644831.1:n.225C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768023" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000644933.1:c.-534C>T" ], "proteinEffect": { "hgvs": "ENSP00000496133.1:n.-534C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768082" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000645020.1:n.225C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768124" }, { "coordinates": [ { "allele": "T", "end": 186, "endIntronDirection": "+", "endIntronOffset": 387, "referenceAllele": "C", "start": 186, "startIntronDirection": "+", "startIntronOffset": 386 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000645285.1:c.-501+387C>T" ], "proteinEffect": { "hgvs": "ENSP00000495058.1:n.-501+387C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768269" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000645331.1:n.218C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768294" }, { "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "C", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000645620.1:c.-476C>T" ], "proteinEffect": { "hgvs": "ENSP00000493657.1:n.-476C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768460" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000646777.1:n.225C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769061" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 387, "referenceAllele": "C", "start": 214, "startIntronDirection": "+", "startIntronOffset": 386 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000647152.1:c.-501+387C>T" ], "proteinEffect": { "hgvs": "ENSP00000495893.1:n.-501+387C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769264" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000647209.1:c.*65C>T" ], "proteinEffect": { "hgvs": "ENSP00000495558.1:n.*65C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769287" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000647346.1:n.217C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769364" }, { "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000299427.10:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000299427.6:p.Gln66Ter", "hgvsWellDefined": "ENSP00000299427.6:p.Gln66_Pro563delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254722" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000428886.6:n.218C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS290414" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000436873.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000398136.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000398136.2:p.Gln66_Leu177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294190" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000524903.1:n.293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350997" }, { "coordinates": [ { "allele": "T", "end": 111, "endIntronDirection": "+", "endIntronOffset": 387, "referenceAllele": "C", "start": 111, "startIntronDirection": "+", "startIntronOffset": 386 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528571.5:c.89+387C>T" ], "proteinEffect": { "hgvs": "ENSP00000434647.1:n.89+387C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354090" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528657.1:c.*383C>T" ], "proteinEffect": { "hgvs": "ENSP00000435001.1:n.*383C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354166" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528917.1:n.497C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS354382" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000530040.1:n.308C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355356" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000531754.1:n.244C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356793" }, { "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000533371.5:c.-534C>T" ], "proteinEffect": { "hgvs": "ENSP00000437066.1:n.-534C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS358154" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 387, "referenceAllele": "C", "start": 214, "startIntronDirection": "+", "startIntronOffset": 386 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000534644.5:n.214+387C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359222" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000484546.1:p.Gln66_Cys556delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400868" }, { "@id": "http://reg.genome.network/allele/PA319157", "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.196C>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Gln66Ter", "hgvsWellDefined": "NP_000382.3:p.Gln66_Pro563delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006452" }, { "@id": "http://reg.genome.network/allele/PA319157", "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.196C>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Gln66Ter", "hgvsWellDefined": "NP_000382.3:p.Gln66_Pro563delinsAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.196C>T" }, "RefSeq": { "hgvs": "NM_000391.4:c.196C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Gln66Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Gln66Ter" } } } } ], "type": "nucleotide" }