{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA198644", "communityStandardTitle": [ "NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185765[alleleid]", "alleleId": 185765, "preferredName": "NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187898", "RCV": [ "RCV000167618", "RCV000709684", "RCV003468816" ], "variationId": 187898 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11851333C>T?assembly=hg19", "id": "chr1:g.11851333C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11791276C>T?assembly=hg38", "id": "chr1:g.11791276C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204030", "rs": 786204030 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11791276, "referenceAllele": "C", "start": 11791275 } ], "hgvs": [ "NC_000001.11:g.11791276C>T", "CM000663.2:g.11791276C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11851333, "referenceAllele": "C", "start": 11851332 } ], "hgvs": [ "NC_000001.10:g.11851333C>T", "CM000663.1:g.11851333C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11773920, "referenceAllele": "C", "start": 11773919 } ], "hgvs": [ "NC_000001.9:g.11773920C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 19828, "referenceAllele": "G", "start": 19827 } ], "hgvs": [ "NG_013351.1:g.19828G>A", "LRG_726:g.19828G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002803" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2858, "referenceAllele": "G", "start": 2857 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.6:c.1806G>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Trp602Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Trp602_Pro697delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751786" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.9:c.1683G>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Trp561Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.1683G>A" }, "RefSeq": { "hgvs": "NM_005957.5:c.1683G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Trp561Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Trp561Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3133, "referenceAllele": "G", "start": 3132 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.6:c.1683G>A" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Trp561Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751789" }, { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "G", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000423400.7:c.1803G>A" ], "proteinEffect": { "hgvs": "ENSP00000398908.3:p.Trp601Ter", "hgvsWellDefined": "ENSP00000398908.3:p.Trp601_Pro696delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754979" }, { "coordinates": [ { "allele": "A", "end": 1950, "referenceAllele": "G", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641407.1:c.1683G>A" ], "proteinEffect": { "hgvs": "ENSP00000493098.1:p.Trp561Ter", "hgvsWellDefined": "ENSP00000493098.1:p.Trp561_Ser642delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766063" }, { "coordinates": [ { "allele": "A", "end": 1920, "referenceAllele": "G", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641446.1:c.*142G>A" ], "proteinEffect": { "hgvs": "ENSP00000493262.1:n.*142G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766088" }, { "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "G", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641747.1:c.*1195G>A" ], "proteinEffect": { "hgvs": "ENSP00000493116.1:n.*1195G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766307" }, { "coordinates": [ { "allele": "A", "end": 2052, "referenceAllele": "G", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641759.1:n.2052G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766315" }, { "coordinates": [ { "allele": "A", "end": 2200, "referenceAllele": "G", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641805.1:n.2200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766348" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641820.1:c.948G>A" ], "proteinEffect": { "hgvs": "ENSP00000492937.1:p.Trp316Ter", "hgvsWellDefined": "ENSP00000492937.1:p.Trp316_Pro411delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766361" }, { "coordinates": [ { "allele": "A", "end": 1806, "referenceAllele": "G", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376583.7:c.1806G>A" ], "proteinEffect": { "hgvs": "ENSP00000365767.3:p.Trp602Ter", "hgvsWellDefined": "ENSP00000365767.3:p.Trp602_Pro697delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271231" }, { "coordinates": [ { "allele": "A", "end": 2858, "referenceAllele": "G", "start": 2857 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.5:c.1806G>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Trp602Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Trp602_Pro697delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271232" }, { "coordinates": [ { "allele": "A", "end": 1867, "referenceAllele": "G", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.1683G>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Trp561Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271234" }, { "coordinates": [ { "allele": "A", "end": 1812, "referenceAllele": "G", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.5:c.1683G>A" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Trp561Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "@id": "http://reg.genome.network/allele/PA198646", "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.1683G>A", "LRG_726t1:c.1683G>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Trp561Ter", "hgvsWellDefined": "NP_005948.3:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "A", "end": 2749, "referenceAllele": "G", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263458.2:c.1806G>A" ], "proteinEffect": { "hgvs": "XP_005263515.1:p.Trp602Ter", "hgvsWellDefined": "XP_005263515.1:p.Trp602_Pro697delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063811" }, { "coordinates": [ { "allele": "A", "end": 2354, "referenceAllele": "G", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.3:c.1683G>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Trp561Ter", "hgvsWellDefined": "XP_005263517.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063812" }, { "coordinates": [ { "allele": "A", "end": 2222, "referenceAllele": "G", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263461.3:c.1683G>A" ], "proteinEffect": { "hgvs": "XP_005263518.1:p.Trp561Ter", "hgvsWellDefined": "XP_005263518.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063813" }, { "coordinates": [ { "allele": "A", "end": 1810, "referenceAllele": "G", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.3:c.1683G>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Trp561Ter", "hgvsWellDefined": "XP_005263519.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063814" }, { "coordinates": [ { "allele": "A", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.2:c.1437G>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Trp479Ter", "hgvsWellDefined": "XP_005263520.1:p.Trp479_Pro574delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063815" }, { "coordinates": [ { "allele": "A", "end": 2746, "referenceAllele": "G", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.1:c.1803G>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Trp601Ter", "hgvsWellDefined": "XP_011539797.1:p.Trp601_Pro696delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108432" }, { "coordinates": [ { "allele": "A", "end": 2749, "referenceAllele": "G", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.1:c.1806G>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Trp602Ter", "hgvsWellDefined": "XP_011539798.1:p.Trp602_Ser683delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108433" }, { "@id": "http://reg.genome.network/allele/PA916028050", "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "G", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.1806G>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Trp602Ter", "hgvsWellDefined": "NP_001317287.1:p.Trp602_Pro697delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "A", "end": 2299, "referenceAllele": "G", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.5:c.1683G>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Trp561Ter", "hgvsWellDefined": "XP_005263517.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535677" }, { "coordinates": [ { "allele": "A", "end": 1800, "referenceAllele": "G", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.4:c.1683G>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Trp561Ter", "hgvsWellDefined": "XP_005263519.1:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535678" }, { "coordinates": [ { "allele": "A", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.4:c.1437G>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Trp479Ter", "hgvsWellDefined": "XP_005263520.1:p.Trp479_Pro574delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535679" }, { "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "G", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.3:c.1803G>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Trp601Ter", "hgvsWellDefined": "XP_011539797.1:p.Trp601_Pro696delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554458" }, { "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.3:c.1806G>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Trp602Ter", "hgvsWellDefined": "XP_011539798.1:p.Trp602_Ser683delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554459" }, { "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_017001328.2:c.1806G>A" ], "proteinEffect": { "hgvs": "XP_016856817.1:p.Trp602Ter", "hgvsWellDefined": "XP_016856817.1:p.Trp602_Pro647delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557530" }, { "coordinates": [ { "allele": "A", "end": 1835, "referenceAllele": "G", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_024447198.1:c.1437G>A" ], "proteinEffect": { "hgvs": "XP_024302966.1:p.Trp479Ter", "hgvsWellDefined": "XP_024302966.1:p.Trp479_Pro574delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580792" }, { "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "G", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XR_002956640.1:n.2784G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602779" }, { "@id": "http://reg.genome.network/allele/PA198646", "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.1683G>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Trp561Ter", "hgvsWellDefined": "NP_005948.3:p.Trp561_Pro656delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.1683G>A" }, "RefSeq": { "hgvs": "NM_005957.5:c.1683G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Trp561Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Trp561Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916028050", "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.1806G>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Trp602Ter", "hgvsWellDefined": "NP_001317287.1:p.Trp602_Pro697delinsGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }