{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338877483", "communityStandardTitle": [ "NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=540714[alleleid]", "alleleId": 540714, "preferredName": "NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551645", "RCV": [ "RCV000666764" ], "variationId": 551645 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21887144G>A?assembly=hg19", "id": "chr1:g.21887144G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21560651G>A?assembly=hg38", "id": "chr1:g.21560651G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553411779", "rs": 1553411779 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 21560651, "referenceAllele": 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"end": 286, "referenceAllele": "G", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.8:c.87G>A" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Trp29Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS751506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.87G>A" }, "RefSeq": { "hgvs": "NM_000478.6:c.87G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Trp29Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Trp29Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374832.5:c.87G>A" ], "proteinEffect": { "hgvs": "ENSP00000363965.1:p.Trp29Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270440" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.7:c.87G>A" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Trp29Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270443" }, { "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "G", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000468526.1:n.147G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311421" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "G", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000539907.5:c.-29G>A" ], "proteinEffect": { "hgvs": "ENSP00000437674.1:n.-29G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362119" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000540617.5:c.-79G>A" ], "proteinEffect": { "hgvs": "ENSP00000442672.1:n.-79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362498" }, { "@id": "http://reg.genome.network/allele/PA658827097", "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.4:c.87G>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Trp29Ter", "hgvsWellDefined": "NP_000469.3:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006532" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.2:c.-79G>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:n.-79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS011630" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.1:c.-29G>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.-29G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015742" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245818.1:c.87G>A" ], "proteinEffect": { "hgvs": "XP_005245875.1:p.Trp29Ter", "hgvsWellDefined": "XP_005245875.1:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057389" }, { "coordinates": [ { "allele": "A", "end": 283, "referenceAllele": "G", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245820.2:c.87G>A" ], "proteinEffect": { "hgvs": "XP_005245877.1:p.Trp29Ter", "hgvsWellDefined": "XP_005245877.1:p.Trp29_Thr390delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgPheLeuProPheGlySerLeuSerTrpGlyProGlyProGluGlyAlaSerSerProSerAlaSerLeuProArgLysAlaAsnProGlnAlaProAlaPheProArgCysValLeuMetPheProGlySerPheSerAlaGlyGlnGlyProCysArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057390" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.1:c.87G>A" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Trp29Ter", "hgvsWellDefined": "XP_006710609.1:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068677" }, { "@id": "http://reg.genome.network/allele/PA658827097", "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.5:c.87G>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Trp29Ter", "hgvsWellDefined": "NP_000469.3:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510798" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.3:c.-79G>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:n.-79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS511411" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.2:c.-29G>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.-29G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS511739" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.3:c.87G>A" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Trp29Ter", "hgvsWellDefined": "XP_006710609.1:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537810" }, { "@id": "http://reg.genome.network/allele/PA658827097", "coordinates": [ { "allele": "A", "end": 286, "referenceAllele": "G", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.87G>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Trp29Ter", "hgvsWellDefined": "NP_000469.3:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.87G>A" }, "RefSeq": { "hgvs": "NM_000478.6:c.87G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Trp29Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Trp29Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 121, "referenceAllele": "G", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.-79G>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:n.-79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "coordinates": [ { "allele": "A", "end": 121, "referenceAllele": "G", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.-29G>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.-29G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362071", "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.87G>A" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Trp29Ter", "hgvsWellDefined": "NP_001356732.1:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828362811", "coordinates": [ { "allele": "A", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.87G>A" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Trp29Ter", "hgvsWellDefined": "NP_001356733.1:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA916047895", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.87G>A" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Trp29Ter", "hgvsWellDefined": "NP_001356734.1:p.Trp29_Phe524delinsArgAspGlnAlaGlnGluThrLeuLysTyrAlaLeuGluLeuGlnLysLeuAsnThrAsnValAlaLysAsnValIleMetPheLeuGlyAspGlyMetGlyValSerThrValThrAlaAlaArgIleLeuLysGlyGlnLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }