{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338423014", "communityStandardTitle": [ "NM_005957.5(MTHFR):c.176G>A (p.Trp59Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837852[alleleid]", "alleleId": 2837852, "preferredName": "NM_005957.5(MTHFR):c.176G>A (p.Trp59Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676840", "RCV": [ "RCV003461965" ], "variationId": 2676840 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11862998C>T?assembly=hg19", "id": "chr1:g.11862998C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11802941C>T?assembly=hg38", "id": "chr1:g.11802941C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204007", "rs": 786204007 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-11862998-C-T?dataset=gnomad_r2_1", "id": 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1350 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.6:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Trp100Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS751786" }, { "coordinates": [ { "allele": "A", "end": 266, "referenceAllele": "G", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.9:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Trp59Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS751789" }, { "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "G", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000423400.7:c.296G>A" ], "proteinEffect": { "hgvs": "ENSP00000398908.3:p.Trp99Ter", "hgvsWellDefined": "ENSP00000398908.3:p.Trp99_Pro696delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754979" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000431243.6:n.957G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS755354" }, { "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641407.1:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000493098.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000493098.1:p.Trp59_Ser642delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766063" }, { "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "G", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641437.1:n.308G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766082" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641446.1:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000493262.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000493262.1:p.Trp59_Gly549delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysAlaAsnHisSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766088" }, { "coordinates": [ { "allele": "A", "end": 233, "referenceAllele": "G", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641721.1:n.233G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766290" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "G", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641747.1:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000493116.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000493116.1:p.Trp59_Arg82delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgProAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766307" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641759.1:n.311G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766315" }, { "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "G", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641805.1:n.459G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766348" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641909.1:n.586G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766428" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000642002.1:n.405G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766490" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376583.7:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000365767.3:p.Trp100Ter", "hgvsWellDefined": "ENSP00000365767.3:p.Trp100_Pro697delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271231" }, { "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.5:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Trp100Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Trp100_Pro697delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271232" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Trp59Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271234" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.5:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000418034.1:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000405082.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000405082.1:p.Trp59Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285202" }, { "@id": "http://reg.genome.network/allele/PA2573241249", "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.176G>A", "LRG_726t1:c.176G>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Trp59Ter", "hgvsWellDefined": "NP_005948.3:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263458.2:c.299G>A" ], "proteinEffect": { "hgvs": "XP_005263515.1:p.Trp100Ter", "hgvsWellDefined": "XP_005263515.1:p.Trp100_Pro697delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063811" }, { "coordinates": [ { "allele": "A", "end": 847, "referenceAllele": "G", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.3:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Trp59Ter", "hgvsWellDefined": "XP_005263517.1:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063812" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263461.3:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005263518.1:p.Trp59Ter", "hgvsWellDefined": "XP_005263518.1:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063813" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.3:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Trp59Ter", "hgvsWellDefined": "XP_005263519.1:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063814" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.2:c.-88G>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063815" }, { "coordinates": [ { "allele": "A", "end": 1239, "referenceAllele": "G", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.1:c.296G>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Trp99Ter", "hgvsWellDefined": "XP_011539797.1:p.Trp99_Pro696delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108432" }, { "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.1:c.299G>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Trp100Ter", "hgvsWellDefined": "XP_011539798.1:p.Trp100_Ser683delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108433" }, { "@id": "http://reg.genome.network/allele/PA2827305904", "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.299G>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Trp100Ter", "hgvsWellDefined": "NP_001317287.1:p.Trp100_Pro697delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.5:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Trp59Ter", "hgvsWellDefined": "XP_005263517.1:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535677" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.4:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Trp59Ter", "hgvsWellDefined": "XP_005263519.1:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535678" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.4:c.-88G>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS535679" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.3:c.296G>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Trp99Ter", "hgvsWellDefined": "XP_011539797.1:p.Trp99_Pro696delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554458" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.3:c.299G>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Trp100Ter", "hgvsWellDefined": "XP_011539798.1:p.Trp100_Ser683delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554459" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_017001328.2:c.299G>A" ], "proteinEffect": { "hgvs": "XP_016856817.1:p.Trp100Ter", "hgvsWellDefined": "XP_016856817.1:p.Trp100_Pro647delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557530" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_024447198.1:c.-88G>A" ], "proteinEffect": { "hgvs": "XP_024302966.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580792" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XR_002956640.1:n.1043G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602779" }, { "@id": "http://reg.genome.network/allele/PA2573241249", "coordinates": [ { "allele": "A", "end": 266, "referenceAllele": "G", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.176G>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Trp59Ter", "hgvsWellDefined": "NP_005948.3:p.Trp59_Pro656delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.176G>A" }, "RefSeq": { "hgvs": "NM_005957.5:c.176G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Trp59Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Trp59Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827305904", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.299G>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Trp100Ter", "hgvsWellDefined": "NP_001317287.1:p.Trp100_Pro697delinsPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }