{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338879124", "communityStandardTitle": [ "NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2097420[alleleid]", "alleleId": 2097420, "preferredName": "NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2035636", "RCV": [ "RCV002890172", "RCV003464631" ], "variationId": 2035636 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21894629C>A?assembly=hg19", "id": "chr1:g.21894629C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21568136C>A?assembly=hg38", "id": "chr1:g.21568136C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2545317132", "rs": 2545317132 } ], "gnomAD_4": [ { "@id": 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{ "@id": "http://reg.genome.network/allele/PA2825623467", "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.3:c.516C>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr172Ter", "hgvsWellDefined": 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}, { "@id": "http://reg.genome.network/allele/PA2826118916", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.2:c.450C>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr150Ter", "hgvsWellDefined": 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}, { "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.3:c.681C>A" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Tyr227Ter", "hgvsWellDefined": 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}, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_017000903.1:c.525C>A" ], "proteinEffect": { "hgvs": "XP_016856392.1:p.Tyr175Ter", "hgvsWellDefined": "XP_016856392.1:p.Tyr175_Phe472delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557171" }, { "@id": "http://reg.genome.network/allele/PA2825185427", "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.681C>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr227Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr227_Phe524delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.681C>A" }, "RefSeq": { "hgvs": "NM_000478.6:c.681C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Tyr227Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Tyr227Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825623467", "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.516C>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr172Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr172_Phe469delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "@id": "http://reg.genome.network/allele/PA2826118916", "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.450C>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr150Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr150_Phe447delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362361", "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.681C>A" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Tyr227Ter", "hgvsWellDefined": "NP_001356732.1:p.Tyr227_Phe524delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828363101", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.681C>A" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Tyr227Ter", "hgvsWellDefined": "NP_001356733.1:p.Tyr227_Phe524delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA2580230167", "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.681C>A" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Tyr227Ter", "hgvsWellDefined": "NP_001356734.1:p.Tyr227_Phe524delinsProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }