{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041474", "communityStandardTitle": [ "NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357978[alleleid]", "alleleId": 357978, "preferredName": "NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370727", "RCV": [ "RCV000409195" ], "variationId": 370727 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6411996G>A?assembly=hg19", "id": "chr11:g.6411996G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6390766G>A?assembly=hg38", "id": "chr11:g.6390766G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516722", "rs": 1057516722 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6390766, "referenceAllele": 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"referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.9:c.168G>A" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Trp56Ter", "hgvsWellDefined": "ENSP00000340409.4:p.Trp56_Cys631delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.168G>A" }, "RefSeq": { "hgvs": "NM_000543.5:c.168G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Trp56Ter" }, "RefSeq": { "hgvs": "NP_000534.3:p.Trp56Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.8:c.168G>A" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Trp56Ter", "hgvsWellDefined": "ENSP00000340409.4:p.Trp56_Cys631delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261512" }, { "coordinates": [ { "allele": "A", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000527275.5:c.168G>A" ], "proteinEffect": { "hgvs": "ENSP00000435350.1:p.Trp56Ter", "hgvsWellDefined": "ENSP00000435350.1:p.Trp56_Cys630delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353010" }, { "coordinates": [ { "allele": "A", "end": 194, "endIntronDirection": "+", "endIntronOffset": 127, "referenceAllele": "G", "start": 194, "startIntronDirection": "+", "startIntronOffset": 126 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000530395.1:c.-96+127G>A" ], "proteinEffect": { "hgvs": "ENSP00000431479.1:n.-96+127G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS355658" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000531303.5:c.168G>A" ], "proteinEffect": { "hgvs": "ENSP00000432625.1:p.Trp56Ter", "hgvsWellDefined": "ENSP00000432625.1:p.Trp56_Pro171delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluAsnTrpGlyValLeuCysSerPheProIleProArgSerProProHisLeuSerGlnTyrGluPheLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356421" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533123.5:c.168G>A" ], "proteinEffect": { "hgvs": "ENSP00000435950.1:p.Trp56Ter", "hgvsWellDefined": "ENSP00000435950.1:p.Trp56_Ile366delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS357940" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533196.1:n.327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358006" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "G", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000534405.5:c.168G>A" ], "proteinEffect": { "hgvs": "ENSP00000434353.1:p.Trp56Ter", "hgvsWellDefined": "ENSP00000434353.1:p.Trp56_Pro402delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysAsnTrpGlyValLeuCysSerPheProIleProArgSerProProHisLeuSerGlnTyrGluPheLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359023" }, { "@id": "http://reg.genome.network/allele/PA645503874", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.4:c.168G>A" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Trp56Ter", "hgvsWellDefined": "NP_000534.3:p.Trp56_Cys631delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006601" }, { "@id": "http://reg.genome.network/allele/PA2825288225", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.2:c.168G>A" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Trp56Ter", "hgvsWellDefined": "NP_001007594.2:p.Trp56_Cys630delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007956" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_005253075.3:c.168G>A" ], "proteinEffect": { "hgvs": "XP_005253132.1:p.Trp56Ter", "hgvsWellDefined": "XP_005253132.1:p.Trp56_Lys508delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060144" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520303.1:c.168G>A" ], "proteinEffect": { "hgvs": "XP_011518605.1:p.Trp56Ter", "hgvsWellDefined": "XP_011518605.1:p.Trp56_Cys587delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087471" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.1:c.168G>A" ], "proteinEffect": { "hgvs": "XP_011518606.1:p.Trp56Ter", "hgvsWellDefined": "XP_011518606.1:p.Trp56_Lys464delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087472" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_930886.1:n.466G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127013" }, { "@id": "http://reg.genome.network/allele/PA2826978532", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.1:c.168G>A" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Trp56Ter", "hgvsWellDefined": "NP_001305016.1:p.Trp56_Lys508delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512720" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.1:c.-794G>A" ], "proteinEffect": { "hgvs": "NP_001305017.1:n.-794G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512721" }, { "@id": "http://reg.genome.network/allele/PA916045085", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.1:c.168G>A" ], "proteinEffect": { "hgvs": "NP_001352064.1:p.Trp56Ter", "hgvsWellDefined": "NP_001352064.1:p.Trp56_Cys587delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524035" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.2:n.353G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527197" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.1:n.353G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527622" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.2:c.168G>A" ], "proteinEffect": { "hgvs": "XP_011518606.1:p.Trp56Ter", "hgvsWellDefined": "XP_011518606.1:p.Trp56_Lys464delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545676" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_001747940.2:n.293G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596017" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_002957158.1:n.293G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603294" }, { "@id": "http://reg.genome.network/allele/PA645503874", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.5:c.168G>A" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Trp56Ter", "hgvsWellDefined": "NP_000534.3:p.Trp56_Cys631delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662482", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.168G>A" }, "RefSeq": { "hgvs": "NM_000543.5:c.168G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Trp56Ter" }, "RefSeq": { "hgvs": "NP_000534.3:p.Trp56Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825288225", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.3:c.168G>A" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Trp56Ter", "hgvsWellDefined": "NP_001007594.2:p.Trp56_Cys630delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675298" }, { "@id": "http://reg.genome.network/allele/PA2826978532", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.2:c.168G>A" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Trp56Ter", "hgvsWellDefined": "NP_001305016.1:p.Trp56_Lys508delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684426" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.2:c.-794G>A" ], "proteinEffect": { "hgvs": "NP_001305017.1:n.-794G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684427" }, { "@id": "http://reg.genome.network/allele/PA916045085", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.2:c.168G>A" ], "proteinEffect": { "hgvs": "NP_001352064.1:p.Trp56Ter", "hgvsWellDefined": "NP_001352064.1:p.Trp56_Cys587delinsAlaProAlaGluAlaHisProLeuSerProGlnGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690988" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.3:n.293G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701945" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.2:n.293G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703473" } ], "type": "nucleotide" }