{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338480134", "communityStandardTitle": [ "NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2000448[alleleid]", "alleleId": 2000448, "preferredName": "NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1937701", "RCV": [ "RCV002627735" ], "variationId": 1937701 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11855223G>T?assembly=hg19", "id": "chr1:g.11855223G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11795166G>T?assembly=hg38", "id": "chr1:g.11795166G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375254845", "rs": 375254845 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-11795166-G-T?dataset=gnomad_r4", "id": "1-11795166-G-T", "variant": "1:11795166 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11795166, "referenceAllele": "G", "start": 11795165 } ], "hgvs": [ "NC_000001.11:g.11795166G>T", "CM000663.2:g.11795166G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11855223, "referenceAllele": "G", "start": 11855222 } ], "hgvs": [ "NC_000001.10:g.11855223G>T", "CM000663.1:g.11855223G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11777810, "referenceAllele": "G", "start": 11777809 } ], "hgvs": [ "NC_000001.9:g.11777810G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 15938, "referenceAllele": "C", "start": 15937 } ], "hgvs": [ "NG_013351.1:g.15938C>A", "LRG_726:g.15938C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002803" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2138, "referenceAllele": "C", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.6:c.1086C>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Tyr362Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Tyr362_Pro697delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751786" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.9:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.963C>A" }, "RefSeq": { "hgvs": "NM_005957.5:c.963C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Tyr321Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Tyr321Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2413, "referenceAllele": "C", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.6:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751789" }, { "coordinates": [ { "allele": "A", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000423400.7:c.1083C>A" ], "proteinEffect": { "hgvs": "ENSP00000398908.3:p.Tyr361Ter", "hgvsWellDefined": "ENSP00000398908.3:p.Tyr361_Pro696delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754979" }, { "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641407.1:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000493098.1:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000493098.1:p.Tyr321_Ser642delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766063" }, { "coordinates": [ { "allele": "A", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641446.1:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000493262.1:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000493262.1:p.Tyr321_Gly549delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysAlaAsnHisSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766088" }, { "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "C", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641721.1:n.826C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766290" }, { "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641747.1:c.*475C>A" ], "proteinEffect": { "hgvs": "ENSP00000493116.1:n.*475C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766307" }, { "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641759.1:n.1098C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766315" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641805.1:n.1246C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766348" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641820.1:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000492937.1:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000492937.1:p.Tyr76_Pro411delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766361" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376583.7:c.1086C>A" ], "proteinEffect": { "hgvs": "ENSP00000365767.3:p.Tyr362Ter", "hgvsWellDefined": "ENSP00000365767.3:p.Tyr362_Pro697delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271231" }, { "coordinates": [ { "allele": "A", "end": 2138, "referenceAllele": "C", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.5:c.1086C>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Tyr362Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Tyr362_Pro697delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271232" }, { "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "C", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271234" }, { "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.5:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "@id": "http://reg.genome.network/allele/PA2579902097", "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.963C>A", "LRG_726t1:c.963C>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Tyr321Ter", "hgvsWellDefined": "NP_005948.3:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "A", "end": 2029, "referenceAllele": "C", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263458.2:c.1086C>A" ], "proteinEffect": { "hgvs": "XP_005263515.1:p.Tyr362Ter", "hgvsWellDefined": "XP_005263515.1:p.Tyr362_Pro697delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063811" }, { "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.3:c.963C>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Tyr321Ter", "hgvsWellDefined": "XP_005263517.1:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063812" }, { "coordinates": [ { "allele": "A", "end": 1502, "referenceAllele": "C", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263461.3:c.963C>A" ], "proteinEffect": { "hgvs": "XP_005263518.1:p.Tyr321Ter", "hgvsWellDefined": "XP_005263518.1:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063813" }, { "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.3:c.963C>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Tyr321Ter", "hgvsWellDefined": "XP_005263519.1:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063814" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.2:c.717C>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Tyr239Ter", "hgvsWellDefined": "XP_005263520.1:p.Tyr239_Pro574delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063815" }, { "coordinates": [ { "allele": "A", "end": 2026, "referenceAllele": "C", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.1:c.1083C>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Tyr361Ter", "hgvsWellDefined": "XP_011539797.1:p.Tyr361_Pro696delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108432" }, { "coordinates": [ { "allele": "A", "end": 2029, "referenceAllele": "C", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.1:c.1086C>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Tyr362Ter", "hgvsWellDefined": "XP_011539798.1:p.Tyr362_Ser683delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108433" }, { "@id": "http://reg.genome.network/allele/PA2580202633", "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.1086C>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Tyr362Ter", "hgvsWellDefined": "NP_001317287.1:p.Tyr362_Pro697delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "A", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.5:c.963C>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Tyr321Ter", "hgvsWellDefined": "XP_005263517.1:p.Tyr321_Pro656delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535677" }, { "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.4:c.963C>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Tyr321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS535678" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.4:c.717C>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Tyr239Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS535679" }, { "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.3:c.1083C>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Tyr361Ter", "hgvsWellDefined": "XP_011539797.1:p.Tyr361_Pro696delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554458" }, { "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.3:c.1086C>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Tyr362Ter", "hgvsWellDefined": "XP_011539798.1:p.Tyr362_Ser683delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554459" }, { "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_017001328.2:c.1086C>A" ], "proteinEffect": { "hgvs": "XP_016856817.1:p.Tyr362Ter", "hgvsWellDefined": "XP_016856817.1:p.Tyr362_Pro647delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557530" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_024447198.1:c.717C>A" ], "proteinEffect": { "hgvs": "XP_024302966.1:p.Tyr239Ter", "hgvsWellDefined": "XP_024302966.1:p.Tyr239_Pro574delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580792" }, { "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XR_002956640.1:n.1830C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602779" }, { "@id": "http://reg.genome.network/allele/PA2579902097", "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.963C>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Tyr321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.963C>A" }, "RefSeq": { "hgvs": "NM_005957.5:c.963C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Tyr321Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Tyr321Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580202633", "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.1086C>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Tyr362Ter", "hgvsWellDefined": "NP_001317287.1:p.Tyr362_Pro697delinsThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }