{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338878072", "communityStandardTitle": [ "NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1330309[alleleid]", "alleleId": 1330309, "preferredName": "NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1339258", "RCV": [ "RCV001823791", "RCV002489891", "RCV004552045" ], "variationId": 1339258 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21887655G>T?assembly=hg19", "id": "chr1:g.21887655G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21561162G>T?assembly=hg38", "id": "chr1:g.21561162G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2148152544", "rs": 2148152544 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-21561162-G-T?dataset=gnomad_r4", "id": "1-21561162-G-T", "variant": "1:21561162 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21561162, "referenceAllele": "G", "start": 21561161 } ], "hgvs": [ "NC_000001.11:g.21561162G>T", "CM000663.2:g.21561162G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21887655, "referenceAllele": "G", "start": 21887654 } ], "hgvs": [ "NC_000001.10:g.21887655G>T", "CM000663.1:g.21887655G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21760242, "referenceAllele": "G", "start": 21760241 } ], "hgvs": [ "NC_000001.9:g.21760242G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 56798, "referenceAllele": "G", "start": 56797 } ], "hgvs": [ "NG_008940.1:g.56798G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001318" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.8:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Glu83Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.247G>T" }, "RefSeq": { "hgvs": "NM_000478.6:c.247G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Glu83Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Glu83Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "G", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374832.5:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000363965.1:p.Glu83Ter", "hgvsWellDefined": "ENSP00000363965.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270440" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.7:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Glu83Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270443" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000468526.1:n.307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS311421" }, { "coordinates": [ { "allele": "T", "end": 212, "endIntronDirection": "+", "endIntronOffset": 417, "referenceAllele": "G", "start": 212, "startIntronDirection": "+", "startIntronOffset": 416 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000539907.5:c.66+417G>T" ], "proteinEffect": { "hgvs": "ENSP00000437674.1:n.66+417G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362119" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000540617.5:c.82G>T" ], "proteinEffect": { "hgvs": "ENSP00000442672.1:p.Glu28Ter", "hgvsWellDefined": "ENSP00000442672.1:p.Glu29_Phe469delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362498" }, { "@id": "http://reg.genome.network/allele/PA2825185042", "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.4:c.247G>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Glu83Ter", "hgvsWellDefined": "NP_000469.3:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006532" }, { "@id": "http://reg.genome.network/allele/PA2825622960", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "G", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.2:c.82G>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Glu28Ter", "hgvsWellDefined": "NP_001120973.2:p.Glu29_Phe469delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011630" }, { "coordinates": [ { "allele": "T", "end": 273, "endIntronDirection": "+", "endIntronOffset": 417, "referenceAllele": "G", "start": 273, "startIntronDirection": "+", "startIntronOffset": 416 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.1:c.66+417G>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.66+417G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS015742" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245818.1:c.247G>T" ], "proteinEffect": { "hgvs": "XP_005245875.1:p.Glu83Ter", "hgvsWellDefined": "XP_005245875.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057389" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245820.2:c.247G>T" ], "proteinEffect": { "hgvs": "XP_005245877.1:p.Glu83Ter", "hgvsWellDefined": "XP_005245877.1:p.Glu84_Thr390delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgPheLeuProPheGlySerLeuSerTrpGlyProGlyProGluGlyAlaSerSerProSerAlaSerLeuProArgLysAlaAsnProGlnAlaProAlaPheProArgCysValLeuMetPheProGlySerPheSerAlaGlyGlnGlyProCysArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057390" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.1:c.247G>T" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Glu83Ter", "hgvsWellDefined": "XP_006710609.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068677" }, { "@id": "http://reg.genome.network/allele/PA2825185042", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.5:c.247G>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Glu83Ter", "hgvsWellDefined": "NP_000469.3:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510798" }, { "@id": "http://reg.genome.network/allele/PA2825622960", "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.3:c.82G>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Glu28Ter", "hgvsWellDefined": "NP_001120973.2:p.Glu29_Phe469delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511411" }, { "coordinates": [ { "allele": "T", "end": 280, "endIntronDirection": "+", "endIntronOffset": 417, "referenceAllele": "G", "start": 280, "startIntronDirection": "+", "startIntronOffset": 416 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.2:c.66+417G>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.66+417G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511739" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.3:c.247G>T" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Glu83Ter", "hgvsWellDefined": "XP_006710609.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537810" }, { "coordinates": [ { "allele": "T", "end": 91, "referenceAllele": "G", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_017000903.1:c.91G>T" ], "proteinEffect": { "hgvs": "XP_016856392.1:p.Glu31Ter", "hgvsWellDefined": "XP_016856392.1:p.Glu32_Phe472delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557171" }, { "@id": "http://reg.genome.network/allele/PA2825185042", "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.247G>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Glu83Ter", "hgvsWellDefined": "NP_000469.3:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.247G>T" }, "RefSeq": { "hgvs": "NM_000478.6:c.247G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Glu83Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Glu83Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825622960", "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.82G>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Glu28Ter", "hgvsWellDefined": "NP_001120973.2:p.Glu29_Phe469delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "coordinates": [ { "allele": "T", "end": 215, "endIntronDirection": "+", "endIntronOffset": 417, "referenceAllele": "G", "start": 215, "startIntronDirection": "+", "startIntronOffset": 416 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.66+417G>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.66+417G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362138", "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.247G>T" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Glu83Ter", "hgvsWellDefined": "NP_001356732.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828362878", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.247G>T" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Glu83Ter", "hgvsWellDefined": "NP_001356733.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA2573072214", "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.247G>T" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Glu83Ter", "hgvsWellDefined": "NP_001356734.1:p.Glu84_Phe524delinsThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }