{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA217299533", "communityStandardTitle": [ "NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1463956[alleleid]", "alleleId": 1463956, "preferredName": "NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1427800", "RCV": [ "RCV001933891" ], "variationId": 1427800 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6413037G>T?assembly=hg19", "id": "chr11:g.6413037G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6391807G>T?assembly=hg38", "id": "chr11:g.6391807G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200763423", "rs": 200763423 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-6391807-G-T?dataset=gnomad_r4", "id": "11-6391807-G-T", "variant": "11:6391807 G / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 6391807, "referenceAllele": "G", "start": 6391806 } ], "hgvs": [ "NC_000011.10:g.6391807G>T", "CM000673.2:g.6391807G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 6413037, "referenceAllele": "G", "start": 6413036 } ], "hgvs": [ "NC_000011.9:g.6413037G>T", "CM000673.1:g.6413037G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 6369613, "referenceAllele": "G", "start": 6369612 } ], "hgvs": [ "NC_000011.8:g.6369613G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 6383, "referenceAllele": "G", "start": 6382 } ], "hgvs": [ "NG_011780.1:g.6383G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001964" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.9:c.742G>T" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Glu248Ter", "hgvsWellDefined": "ENSP00000340409.4:p.Glu248_Cys631delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.742G>T" }, "RefSeq": { "hgvs": "NM_000543.5:c.742G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Glu248Ter" }, "RefSeq": { "hgvs": "NP_000534.3:p.Glu248Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.8:c.742G>T" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Glu248Ter", "hgvsWellDefined": "ENSP00000340409.4:p.Glu248_Cys631delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261512" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000527275.5:c.739G>T" ], "proteinEffect": { "hgvs": "ENSP00000435350.1:p.Glu247Ter", "hgvsWellDefined": "ENSP00000435350.1:p.Glu247_Cys630delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353010" }, { "coordinates": [ { "allele": "T", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000530395.1:c.-78G>T" ], "proteinEffect": { "hgvs": "ENSP00000431479.1:n.-78G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355658" }, { "coordinates": [ { "allele": "T", "end": 455, "endIntronDirection": "+", "endIntronOffset": 304, "referenceAllele": "G", "start": 455, "startIntronDirection": "+", "startIntronOffset": 303 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000531303.5:c.438+304G>T" ], "proteinEffect": { "hgvs": "ENSP00000432625.1:n.438+304G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356421" }, { "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "G", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533123.5:c.742G>T" ], "proteinEffect": { "hgvs": "ENSP00000435950.1:p.Glu248Ter", "hgvsWellDefined": "ENSP00000435950.1:p.Glu248_Ile366delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS357940" }, { "coordinates": [ { "allele": "T", "end": 374, "endIntronDirection": "-", "endIntronOffset": 198, "referenceAllele": "G", "start": 374, "startIntronDirection": "-", "startIntronOffset": 199 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533196.1:n.375-199G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358006" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000534405.5:c.742G>T" ], "proteinEffect": { "hgvs": "ENSP00000434353.1:p.Glu248Ter", "hgvsWellDefined": "ENSP00000434353.1:p.Glu248_Pro402delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysAsnTrpGlyValLeuCysSerPheProIleProArgSerProProHisLeuSerGlnTyrGluPheLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359023" }, { "@id": "http://reg.genome.network/allele/PA2825205885", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.4:c.742G>T" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Glu248Ter", "hgvsWellDefined": "NP_000534.3:p.Glu248_Cys631delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006601" }, { "@id": "http://reg.genome.network/allele/PA2825288411", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "G", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.2:c.739G>T" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Glu247Ter", "hgvsWellDefined": "NP_001007594.2:p.Glu247_Cys630delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007956" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_005253075.3:c.742G>T" ], "proteinEffect": { "hgvs": "XP_005253132.1:p.Glu248Ter", "hgvsWellDefined": "XP_005253132.1:p.Glu248_Lys508delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060144" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520303.1:c.742G>T" ], "proteinEffect": { "hgvs": "XP_011518605.1:p.Glu248Ter", "hgvsWellDefined": "XP_011518605.1:p.Glu248_Cys587delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087471" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.1:c.742G>T" ], "proteinEffect": { "hgvs": "XP_011518606.1:p.Glu248Ter", "hgvsWellDefined": "XP_011518606.1:p.Glu248_Lys464delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087472" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_930886.1:n.1040G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127013" }, { "@id": "http://reg.genome.network/allele/PA2826978717", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.1:c.742G>T" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Glu248Ter", "hgvsWellDefined": "NP_001305016.1:p.Glu248_Lys508delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512720" }, { "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.1:c.-220G>T" ], "proteinEffect": { "hgvs": "NP_001305017.1:n.-220G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS512721" }, { "@id": "http://reg.genome.network/allele/PA2573210520", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.1:c.742G>T" ], "proteinEffect": { "hgvs": "NP_001352064.1:p.Glu248Ter", "hgvsWellDefined": "NP_001352064.1:p.Glu248_Cys587delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524035" }, { "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.2:n.927G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527197" }, { "coordinates": [ { "allele": "T", "end": 623, "endIntronDirection": "+", "endIntronOffset": 304, "referenceAllele": "G", "start": 623, "startIntronDirection": "+", "startIntronOffset": 303 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.1:n.623+304G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527622" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.2:c.742G>T" ], "proteinEffect": { "hgvs": "XP_011518606.1:p.Glu248Ter", "hgvsWellDefined": "XP_011518606.1:p.Glu248_Lys464delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545676" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_001747940.2:n.867G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596017" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_002957158.1:n.867G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603294" }, { "@id": "http://reg.genome.network/allele/PA2825205885", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.5:c.742G>T" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Glu248Ter", "hgvsWellDefined": "NP_000534.3:p.Glu248_Cys631delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662482", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.742G>T" }, "RefSeq": { "hgvs": "NM_000543.5:c.742G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Glu248Ter" }, "RefSeq": { "hgvs": "NP_000534.3:p.Glu248Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825288411", "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.3:c.739G>T" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Glu247Ter", "hgvsWellDefined": "NP_001007594.2:p.Glu247_Cys630delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675298" }, { "@id": "http://reg.genome.network/allele/PA2826978717", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.2:c.742G>T" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Glu248Ter", "hgvsWellDefined": "NP_001305016.1:p.Glu248_Lys508delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684426" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.2:c.-220G>T" ], "proteinEffect": { "hgvs": "NP_001305017.1:n.-220G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684427" }, { "@id": "http://reg.genome.network/allele/PA2573210520", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.2:c.742G>T" ], "proteinEffect": { "hgvs": "NP_001352064.1:p.Glu248Ter", "hgvsWellDefined": "NP_001352064.1:p.Glu248_Cys587delinsTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690988" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.3:n.867G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701945" }, { "coordinates": [ { "allele": "T", "end": 563, "endIntronDirection": "+", "endIntronOffset": 304, "referenceAllele": "G", "start": 563, "startIntronDirection": "+", "startIntronOffset": 303 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.2:n.563+304G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703473" } ], "type": "nucleotide" }