{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349702403", "communityStandardTitle": [ "NM_003659.4(AGPS):c.544C>T (p.Arg182Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=922421[alleleid]", "alleleId": 922421, "preferredName": "NM_003659.4(AGPS):c.544C>T (p.Arg182Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/944256", "RCV": [ "RCV001214616", "RCV003469364" ], "variationId": 944256 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178301594C>T?assembly=hg19", "id": "chr2:g.178301594C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.177436866C>T?assembly=hg38", "id": "chr2:g.177436866C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1686426425", "rs": 1686426425 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-177436866-C-T?dataset=gnomad_r4", "id": "2-177436866-C-T", "variant": "2:177436866 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 177436866, "referenceAllele": "C", "start": 177436865 } ], "hgvs": [ "NC_000002.12:g.177436866C>T", "CM000664.2:g.177436866C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 178301594, "referenceAllele": "C", "start": 178301593 } ], "hgvs": [ "NC_000002.11:g.178301594C>T", "CM000664.1:g.178301594C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 178009840, "referenceAllele": "C", "start": 178009839 } ], "hgvs": [ "NC_000002.10:g.178009840C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 49124, "referenceAllele": "C", "start": 49123 } ], "hgvs": [ "NG_008968.1:g.49124C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000264167.11:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000264167.4:p.Arg182Ter", "hgvsWellDefined": "ENSP00000264167.4:p.Arg182_Leu658delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742631", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264167.11:c.544C>T" }, "RefSeq": { "hgvs": "NM_003659.4:c.544C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264167.4:p.Arg182Ter" }, "RefSeq": { "hgvs": "NP_003650.1:p.Arg182Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000460342.2:n.586C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756684" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000637633.2:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000490844.2:p.Arg182Ter", "hgvsWellDefined": "ENSP00000490844.2:p.Arg182_Ser629delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGlyLeuGlnLeuGluGlyThrCysTyrGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764000" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000642466.2:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000494433.2:p.Arg182Ter", "hgvsWellDefined": "ENSP00000494433.2:p.Arg182_Phe676delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGluHisGluProHisSerThrSerThrHisHisGlyArgTyrArgIleProGlnIleCysGlyArgSerPheProProLeuAspAsnPheGlnAspSerSerArgPheLeuProGluProSerThrGlnGluCysIleSerProTrpPheHisHisIleHisSerLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766761" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679421.1:n.574C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779052" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679459.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000506137.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000506137.1:p.Arg182_Leu638delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGluSerArgProValAlaArgLeuGluCysSerGlyMetValSerAlaHisCysAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779090" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679478.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000506484.1:p.Arg92Ter", "hgvsWellDefined": "ENSP00000506484.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779109" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679639.1:n.347C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779267" }, { "coordinates": [ { "allele": "T", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679994.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000504957.1:p.Arg92Ter", "hgvsWellDefined": "ENSP00000504957.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779616" }, { "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680028.1:n.709C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779649" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680155.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000505333.1:p.Arg92Ter", "hgvsWellDefined": "ENSP00000505333.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779775" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680677.1:n.574C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780292" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680705.1:n.588C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780320" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680770.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000505536.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000505536.1:p.Arg182_Glu624delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGlyIleLeuPheTrpGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780385" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680893.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000505929.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000505929.1:p.Arg182_Arg251delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyArgArgAsnLysCysPheIleTrpProAspValSerCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780507" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680910.1:n.574C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780524" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681028.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000506323.1:p.Arg92Ter", "hgvsWellDefined": "ENSP00000506323.1:p.Arg92_Tyr410delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyThrTrpLeuTrpAsnThrMetTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780641" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681032.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000505205.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000505205.1:p.Arg182_Thr245delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyValProGlnIleAlaArgGlyPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780645" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681449.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000505342.1:p.Arg92Ter", "hgvsWellDefined": "ENSP00000505342.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781056" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681565.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000505620.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000505620.1:p.Arg182_Tyr341delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuCysTyrArgAlaGluAlaHisArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781171" }, { "coordinates": [ { "allele": "T", "end": 726, "referenceAllele": "C", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681752.1:c.*314C>T" ], "proteinEffect": { "hgvs": "ENSP00000504994.1:n.*314C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781355" }, { "coordinates": [ { "allele": "T", "end": 2918, "referenceAllele": "C", "start": 2917 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681891.1:n.2918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781491" }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000264167.8:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000264167.4:p.Arg182Ter", "hgvsWellDefined": "ENSP00000264167.4:p.Arg182_Leu658delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251434" }, { "coordinates": [ { "allele": "T", "end": 372, "endIntronDirection": "+", "endIntronOffset": 16508, "referenceAllele": "C", "start": 372, "startIntronDirection": "+", "startIntronOffset": 16507 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000409888.1:c.350+16508C>T" ], "proteinEffect": { "hgvs": "ENSP00000386688.1:n.350+16508C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS281937" }, { "@id": "http://reg.genome.network/allele/PA1139718815", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "NM_003659.3:c.544C>T" ], "proteinEffect": { "hgvs": "NP_003650.1:p.Arg182Ter", "hgvsWellDefined": "NP_003650.1:p.Arg182_Leu658delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028888" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512041.1:c.274C>T" ], "proteinEffect": { "hgvs": "XP_011510343.1:p.Arg92Ter", "hgvsWellDefined": "XP_011510343.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079300" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "C", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512042.1:c.274C>T" ], "proteinEffect": { "hgvs": "XP_011510344.1:p.Arg92Ter", "hgvsWellDefined": "XP_011510344.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079301" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512044.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011510346.1:p.Arg182Ter", "hgvsWellDefined": "XP_011510346.1:p.Arg182_Tyr341delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuCysTyrArgAlaGluAlaHisArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079303" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512045.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011510347.1:p.Arg182Ter", "hgvsWellDefined": "XP_011510347.1:p.Arg182_Val336delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuGluLeuLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079304" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512041.2:c.274C>T" ], "proteinEffect": { "hgvs": "XP_011510343.1:p.Arg92Ter", "hgvsWellDefined": "XP_011510343.1:p.Arg92_Leu568delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542393" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XR_001739007.2:n.561C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589420" }, { "@id": "http://reg.genome.network/allele/PA1139718815", "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "NM_003659.4:c.544C>T" ], "proteinEffect": { "hgvs": "NP_003650.1:p.Arg182Ter", "hgvsWellDefined": "NP_003650.1:p.Arg182_Leu658delinsValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666124", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264167.11:c.544C>T" }, "RefSeq": { "hgvs": "NM_003659.4:c.544C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264167.4:p.Arg182Ter" }, "RefSeq": { "hgvs": "NP_003650.1:p.Arg182Ter" } } } } ], "type": "nucleotide" }