{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341756", "communityStandardTitle": [ "NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34075[alleleid]", "alleleId": 34075, "preferredName": "NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2955970", "RCV": [ "RCV003811121" ], "variationId": 2955970 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.66618620G>T?assembly=hg19", "id": "chr11:g.66618620G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.66851149G>T?assembly=hg38", "id": "chr11:g.66851149G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/113994146", "rs": 113994146 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 66851149, "referenceAllele": "G", "start": 66851148 } ], "hgvs": [ "NC_000011.10:g.66851149G>T", "CM000673.2:g.66851149G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 66618620, "referenceAllele": "G", "start": 66618619 } ], "hgvs": [ "NC_000011.9:g.66618620G>T", "CM000673.1:g.66618620G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 66375196, "referenceAllele": "G", "start": 66375195 } ], "hgvs": [ "NC_000011.8:g.66375196G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 112228, "referenceAllele": "C", "start": 112227 } ], "hgvs": [ "NG_008319.1:g.112228C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001026" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2215, "referenceAllele": "C", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000393958.7:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000377530.2:p.Ser705Ter", "hgvsWellDefined": "ENSP00000377530.2:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753195" }, { "coordinates": [ { "allele": "A", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000393960.7:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000377532.1:p.Ser705Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753197", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393960.7:c.2114C>A" }, "RefSeq": { "hgvs": "NM_001040716.2:c.2114C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377532.1:p.Ser705Ter" }, "RefSeq": { "hgvs": "NP_001035806.1:p.Ser705Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 289, "endIntronDirection": "-", "endIntronOffset": 1083, "referenceAllele": "C", "start": 289, "startIntronDirection": "-", "startIntronOffset": 1084 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000525476.2:n.290-1084C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758910" }, { "coordinates": [ { "allele": "A", "end": 2120, "referenceAllele": "C", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000528224.2:c.*123C>A" ], "proteinEffect": { "hgvs": "ENSP00000498317.1:n.*123C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759069" }, { "coordinates": [ { "allele": "A", "end": 2343, "referenceAllele": "C", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000529047.6:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000435905.2:p.Ser705Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS759115" }, { "coordinates": [ { "allele": "A", "end": 2964, "referenceAllele": "C", "start": 2963 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000651036.1:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000498406.1:p.Ser705Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS771432" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000651469.1:c.*590C>A" ], "proteinEffect": { "hgvs": "ENSP00000498712.1:n.*590C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771685" }, { "coordinates": [ { "allele": "A", "end": 3365, "referenceAllele": "C", "start": 3364 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000651854.1:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000498994.1:p.Ser705Ter", "hgvsWellDefined": "ENSP00000498994.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771893" }, { "coordinates": [ { "allele": "A", "end": 2578, "referenceAllele": "C", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000652125.1:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000498302.1:p.Ser705Ter", "hgvsWellDefined": "ENSP00000498302.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772039" }, { "coordinates": [ { "allele": "A", "end": 2195, "referenceAllele": "C", "start": 2194 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000393955.6:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000377527.2:p.Ser705Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS275895" }, { "coordinates": [ { "allele": "A", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000393958.6:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000377530.2:p.Ser705Ter", "hgvsWellDefined": "ENSP00000377530.2:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275898" }, { "coordinates": [ { "allele": "A", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000393960.5:c.2114C>A" ], "proteinEffect": { "hgvs": "ENSP00000377532.1:p.Ser705Ter", "hgvsWellDefined": "ENSP00000377532.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275900" }, { "coordinates": [ { "allele": "A", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "ENST00000530259.1:n.727C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355543" }, { "@id": "http://reg.genome.network/allele/PA341757", "coordinates": [ { "allele": "A", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "NM_000920.3:c.2114C>A" ], "proteinEffect": { "hgvs": "NP_000911.2:p.Ser705Ter", "hgvsWellDefined": "NP_000911.2:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006945" }, { "@id": "http://reg.genome.network/allele/PA341758", "coordinates": [ { "allele": "A", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "NM_001040716.1:c.2114C>A" ], "proteinEffect": { "hgvs": "NP_001035806.1:p.Ser705Ter", "hgvsWellDefined": "NP_001035806.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009639" }, { "@id": "http://reg.genome.network/allele/PA916065399", "coordinates": [ { "allele": "A", "end": 2163, "referenceAllele": "C", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "NM_022172.2:c.2114C>A" ], "proteinEffect": { "hgvs": "NP_071504.2:p.Ser705Ter", "hgvsWellDefined": "NP_071504.2:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037264" }, { "coordinates": [ { "allele": "A", "end": 2207, "referenceAllele": "C", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_005274031.3:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_005274088.1:p.Ser705Ter", "hgvsWellDefined": "XP_005274088.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067807" }, { "coordinates": [ { "allele": "A", "end": 2185, "referenceAllele": "C", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_005274032.3:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_005274089.1:p.Ser705Ter", "hgvsWellDefined": "XP_005274089.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067808" }, { "coordinates": [ { "allele": "A", "end": 2267, "referenceAllele": "C", "start": 2266 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_006718577.2:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_006718640.1:p.Ser705Ter", "hgvsWellDefined": "XP_006718640.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072701" }, { "coordinates": [ { "allele": "A", "end": 2135, "referenceAllele": "C", "start": 2134 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_006718578.2:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_006718641.1:p.Ser705Ter", "hgvsWellDefined": "XP_006718641.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072702" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_006718579.2:c.593C>A" ], "proteinEffect": { "hgvs": "XP_006718642.1:p.Ser198Ter", "hgvsWellDefined": "XP_006718642.1:p.Ser198_Glu671delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072703" }, { "coordinates": [ { "allele": "A", "end": 2133, "referenceAllele": "C", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_011545085.1:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_011543387.1:p.Ser705Ter", "hgvsWellDefined": "XP_011543387.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111992" }, { "coordinates": [ { "allele": "A", "end": 2133, "referenceAllele": "C", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_011545086.1:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_011543388.1:p.Ser705Ter", "hgvsWellDefined": "XP_011543388.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111993" }, { "coordinates": [ { "allele": "A", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_011545087.1:c.818C>A" ], "proteinEffect": { "hgvs": "XP_011543389.1:p.Ser273Ter", "hgvsWellDefined": "XP_011543389.1:p.Ser273_Glu746delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111994" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_011545088.1:c.749C>A" ], "proteinEffect": { "hgvs": "XP_011543390.1:p.Ser250Ter", "hgvsWellDefined": "XP_011543390.1:p.Ser250_Glu723delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111995" }, { "coordinates": [ { "allele": "A", "end": 2255, "referenceAllele": "C", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_005274031.4:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_005274088.1:p.Ser705Ter", "hgvsWellDefined": "XP_005274088.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537546" }, { "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_005274032.4:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_005274089.1:p.Ser705Ter", "hgvsWellDefined": "XP_005274089.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537547" }, { "coordinates": [ { "allele": "A", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_006718578.3:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_006718641.1:p.Ser705Ter", "hgvsWellDefined": "XP_006718641.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539653" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_006718579.3:c.593C>A" ], "proteinEffect": { "hgvs": "XP_006718642.1:p.Ser198Ter", "hgvsWellDefined": "XP_006718642.1:p.Ser198_Glu671delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539654" }, { "coordinates": [ { "allele": "A", "end": 2524, "referenceAllele": "C", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_011545086.2:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_011543388.1:p.Ser705Ter", "hgvsWellDefined": "XP_011543388.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555925" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_011545087.2:c.818C>A" ], "proteinEffect": { "hgvs": "XP_011543389.1:p.Ser273Ter", "hgvsWellDefined": "XP_011543389.1:p.Ser273_Glu746delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555926" }, { "coordinates": [ { "allele": "A", "end": 2695, "referenceAllele": "C", "start": 2694 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_017017868.1:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_016873357.1:p.Ser705Ter", "hgvsWellDefined": "XP_016873357.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569953" }, { "coordinates": [ { "allele": "A", "end": 2566, "referenceAllele": "C", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_017017869.1:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_016873358.1:p.Ser705Ter", "hgvsWellDefined": "XP_016873358.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569954" }, { "coordinates": [ { "allele": "A", "end": 2507, "referenceAllele": "C", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_017017870.1:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_016873359.1:p.Ser705Ter", "hgvsWellDefined": "XP_016873359.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569955" }, { "coordinates": [ { "allele": "A", "end": 2378, "referenceAllele": "C", "start": 2377 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_017017871.1:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_016873360.1:p.Ser705Ter", "hgvsWellDefined": "XP_016873360.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569956" }, { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "C", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "XM_017017872.2:c.2114C>A" ], "proteinEffect": { "hgvs": "XP_016873361.1:p.Ser705Ter", "hgvsWellDefined": "XP_016873361.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569957" }, { "@id": "http://reg.genome.network/allele/PA341757", "coordinates": [ { "allele": "A", "end": 2215, "referenceAllele": "C", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "NM_000920.4:c.2114C>A" ], "proteinEffect": { "hgvs": "NP_000911.2:p.Ser705Ter", "hgvsWellDefined": "NP_000911.2:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674984" }, { "@id": "http://reg.genome.network/allele/PA341758", "coordinates": [ { "allele": "A", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "NM_001040716.2:c.2114C>A" ], "proteinEffect": { "hgvs": "NP_001035806.1:p.Ser705Ter", "hgvsWellDefined": "NP_001035806.1:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675997", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393960.7:c.2114C>A" }, "RefSeq": { "hgvs": "NM_001040716.2:c.2114C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377532.1:p.Ser705Ter" }, "RefSeq": { "hgvs": "NP_001035806.1:p.Ser705Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916065399", "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "C", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN008636", "geneNCBI_id": 5091, "geneSymbol": "PC", "hgvs": [ "NM_022172.3:c.2114C>A" ], "proteinEffect": { "hgvs": "NP_071504.2:p.Ser705Ter", "hgvsWellDefined": "NP_071504.2:p.Ser705_Glu1178delinsTyrThrGlyAspValAlaAspProSerArgThrLysTyrSerLeuGlnTyrTyrMetGlyLeuAlaGluGluLeuValArgAlaGlyThrHisIleLeuCysIleLysAspMetAlaGlyLeuLeuLysProThrAlaCysThrMetLeuValSerSerLeuArgAspArgPheProAspLeuProLeuHisIleHisThrHisAspThrSerGlyAlaGlyValAlaAlaMetLeuAlaCysAlaGlnAlaGlyAlaAspValValAspValAlaAlaAspSerMetSerGlyMetThrSerGlnProSerMetGlyAlaLeuValAlaCysThrArgGlyThrProLeuAspThrGluValProMetGluArgValPheAspTyrSerGluTyrTrpGluGlyAlaArgGlyLeuTyrAlaAlaPheAspCysThrAlaThrMetLysSerGlyAsnSerAspValTyrGluAsnGluIleProGlyGlyGlnTyrThrAsnLeuHisPheGlnAlaHisSerMetGlyLeuGlySerLysPheLysGluValLysLysAlaTyrValGluAlaAsnGlnMetLeuGlyAspLeuIleLysValThrProSerSerLysIleValGlyAspLeuAlaGlnPheMetValGlnAsnGlyLeuSerArgAlaGluAlaGluAlaGlnAlaGluGluLeuSerPheProArgSerValValGluPheLeuGlnGlyTyrIleGlyValProHisGlyGlyPheProGluProPheArgSerLysValLeuLysAspLeuProArgValGluGlyArgProGlyAlaSerLeuProProLeuAspLeuGlnAlaLeuGluLysGluLeuValAspArgHisGlyGluGluValThrProGluAspValLeuSerAlaAlaMetTyrProAspValPheAlaHisPheLysAspPheThrAlaThrPheGlyProLeuAspSerLeuAsnThrArgLeuPheLeuGlnGlyProLysIleAlaGluGluPheGluValGluLeuGluArgGlyLysThrLeuHisIleLysAlaLeuAlaValSerAspLeuAsnArgAlaGlyGlnArgGlnValPhePheGluLeuAsnGlyGlnLeuArgSerIleLeuValLysAspThrGlnAlaMetLysGluMetHisPheHisProLysAlaLeuLysAspValLysGlyGlnIleGlyAlaProMetProGlyLysValIleAspIleLysValValAlaGlyAlaLysValAlaLysGlyGlnProLeuCysValLeuSerAlaMetLysMetGluThrValValThrSerProMetGluGlyThrValArgLysValHisValThrLysAspMetThrLeuGluGlyAspAspLeuIleLeuGluIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698524" } ], "type": "nucleotide" }