{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7226008", "communityStandardTitle": [ "NM_005956.4(MTHFD1):c.673G>T (p.Glu225Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439711[alleleid]", "alleleId": 439711, "preferredName": "NM_005956.4(MTHFD1):c.673G>T (p.Glu225Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446307", "RCV": [ "RCV000515548", "RCV002525002" ], "variationId": 446307 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-64886589-G-T", "id": "14-64886589-G-T", "variant": "14:64886589 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.64886589G>T?assembly=hg19", "id": "chr14:g.64886589G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.64419871G>T?assembly=hg38", "id": "chr14:g.64419871G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/760889414", "rs": 760889414 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-64886589-G-T?dataset=gnomad_r2_1", "id": "14-64886589-G-T", "variant": "14:64886589 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-64419871-G-T?dataset=gnomad_r4", "id": "14-64419871-G-T", "variant": "14:64419871 G / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 64419871, "referenceAllele": "G", "start": 64419870 } ], "hgvs": [ "NC_000014.9:g.64419871G>T", "CM000676.2:g.64419871G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 64886589, "referenceAllele": "G", "start": 64886588 } ], "hgvs": [ "NC_000014.8:g.64886589G>T", "CM000676.1:g.64886589G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 63956342, "referenceAllele": "G", "start": 63956341 } ], "hgvs": [ "NC_000014.7:g.63956342G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 36831, "referenceAllele": "G", "start": 36830 } ], "hgvs": [ "NG_012450.1:g.36831G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002411" }, { "coordinates": [ { "allele": "T", "end": 36831, "referenceAllele": "G", "start": 36830 } ], "hgvs": [ "NG_012450.2:g.36831G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616182" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000555858.2:n.822G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905869" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000557539.2:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000476468.2:p.Glu144Ter", "hgvsWellDefined": "ENSP00000476468.2:p.Glu144_Phe854delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905888" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697166.1:n.822G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908571" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697167.1:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000513155.1:p.Glu225Ter", "hgvsWellDefined": "ENSP00000513155.1:p.Glu225_Val392delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyTrpArgCysArgArgArgLeuLeuProGlyHisSerTyrGlyArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908572" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697168.1:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000513156.1:p.Glu225Ter", "hgvsWellDefined": "ENSP00000513156.1:p.Glu225_Phe884delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908573" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697169.1:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000513157.1:p.Glu225Ter", "hgvsWellDefined": "ENSP00000513157.1:p.Glu225_Glu628delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908574" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697170.1:n.822G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908575" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697171.1:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000513158.1:p.Glu225Ter", "hgvsWellDefined": "ENSP00000513158.1:p.Glu225_Pro906delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnValAspValTrpAlaLeuGlyIleSerProSerAlaTrpLeuLysHisThrCysLeuCysLeuThrThrGlnSerLysLysValSerLeuGlnAlaSerPheCysProPheAlaThrSerAlaProAlaLeuGlyLeuValPheCysThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908576" }, { "coordinates": [ { "allele": "T", "end": 1062, "referenceAllele": "G", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697173.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000513159.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000513159.1:p.Glu144_Phe854delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908578" }, { "coordinates": [ { "allele": "T", "end": 540, "endIntronDirection": "+", "endIntronOffset": 4132, "referenceAllele": "G", "start": 540, "startIntronDirection": "+", "startIntronOffset": 4131 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697174.1:c.478+4132G>T" ], "proteinEffect": { "hgvs": "ENSP00000513160.1:n.478+4132G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908579" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697175.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000513161.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000513161.1:p.Glu144_Gly356delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysAlaProAlaValThrValGlyHisCysThrGlyIleLeuTrpAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908580" }, { "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000697176.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000513162.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000513162.1:p.Glu144_Pro762delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheAsnSerGlnLeuArgIleLysSerGlySerLeuHisArgArgSerMetGluGlnMetThrLeuAsnTyrPheProLysLeuAsnThrLysLeuLysSerThrArgSerArgAlaLeuGlyIleSerProSerAlaTrpLeuLysHisThrCysLeuCysLeuThrThrGlnSerLysLysValSerLeuGlnAlaSerPheCysProPheAlaThrSerAlaProAlaLeuGlyLeuValPheCysThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908581" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000545908.6:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000438588.2:p.Glu225Ter", "hgvsWellDefined": "ENSP00000438588.2:p.Glu225_Val964delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrIleThrIleHisLeuGlnGluAlaThrLeuLysValTrpProValSerIleGlnAlaHisTrpGluLeuGlySerIleSerLysProArgGluValSerProCysProGluAspLeuLysLeuIleValGlyValSerProGluValIlePheSerLeuAsnSerHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759821" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000554768.6:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000477501.2:p.Glu144Ter", "hgvsWellDefined": "ENSP00000477501.2:p.Glu144_Phe854delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760103" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "G", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000555709.7:c.*50G>T" ], "proteinEffect": { "hgvs": "ENSP00000450560.3:n.*50G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS760133" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "G", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000557370.3:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000477199.2:p.Glu225Ter", "hgvsWellDefined": "ENSP00000477199.2:p.Glu225_Val922delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrValSerAlaCysCysLysGlyValValGlyAlaSerAlaLeuLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760203" }, { "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000650853.1:n.748G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS771352" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "G", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000651537.1:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000498511.1:p.Glu225Ter", "hgvsWellDefined": "ENSP00000498511.1:p.Glu225_Phe935delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771723" }, { "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000652179.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000498649.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000498649.1:p.Glu144_Phe854delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772062" }, { "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000652337.1:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000498336.1:p.Glu225Ter", "hgvsWellDefined": "ENSP00000498336.1:p.Glu225_Phe935delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772150", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652337.1:c.673G>T" }, "RefSeq": { "hgvs": "NM_005956.4:c.673G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498336.1:p.Glu225Ter" }, "RefSeq": { "hgvs": "NP_005947.3:p.Glu225Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000652503.1:n.297G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772246" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "G", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000216605.12:c.673G>T" ], "proteinEffect": { "hgvs": "ENSP00000216605.8:p.Glu225Ter", "hgvsWellDefined": "ENSP00000216605.8:p.Glu225_Phe935delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248032" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000545908.5:c.841G>T" ], "proteinEffect": { "hgvs": "ENSP00000438588.1:p.Glu281Ter", "hgvsWellDefined": "ENSP00000438588.1:p.Glu281_Val1020delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrIleThrIleHisLeuGlnGluAlaThrLeuLysValTrpProValSerIleGlnAlaHisTrpGluLeuGlySerIleSerLysProArgGluValSerProCysProGluAspLeuLysLeuIleValGlyValSerProGluValIlePheSerLeuAsnSerHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365352" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "G", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000554057.5:n.106G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370336" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "ENST00000555252.5:n.730G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371294" }, { "@id": "http://reg.genome.network/allele/PA658677957", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "NM_005956.3:c.673G>T" ], "proteinEffect": { "hgvs": "NP_005947.3:p.Glu225Ter", "hgvsWellDefined": "NP_005947.3:p.Glu225_Phe935delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031007" }, { "@id": "http://reg.genome.network/allele/PA2828156125", "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "NM_001364837.1:c.673G>T" ], "proteinEffect": { "hgvs": "NP_001351766.1:p.Glu225Ter", "hgvsWellDefined": "NP_001351766.1:p.Glu225_Val964delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrIleThrIleHisLeuGlnGluAlaThrLeuLysValTrpProValSerIleGlnAlaHisTrpGluLeuGlySerIleSerLysProArgGluValSerProCysProGluAspLeuLysLeuIleValGlyValSerProGluValIlePheSerLeuAsnSerHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523958" }, { "@id": "http://reg.genome.network/allele/PA658677957", "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007432", "geneNCBI_id": 4522, "geneSymbol": "MTHFD1", "hgvs": [ "NM_005956.4:c.673G>T" ], "proteinEffect": { "hgvs": "NP_005947.3:p.Glu225Ter", "hgvsWellDefined": "NP_005947.3:p.Glu225_Phe935delinsTrpIleLysProGlyAlaIleValIleAspCysGlyIleAsnTyrValProAspAspLysLysProAsnGlyArgLysValValGlyAspValAlaTyrAspGluAlaLysGluArgAlaSerPheIleThrProValProGlyGlyValGlyProMetThrValAlaMetLeuMetGlnSerThrValGluSerAlaLysArgPheLeuGluLysPheLysProGlyLysTrpMetIleGlnTyrAsnAsnLeuAsnLeuLysThrProValProSerAspIleAspIleSerArgSerCysLysProLysProIleGlyLysLeuAlaArgGluIleGlyLeuLeuSerGluGluValGluLeuTyrGlyGluThrLysAlaLysValLeuLeuSerAlaLeuGluArgLeuLysHisArgProAspGlyLysTyrValValValThrGlyIleThrProThrProLeuGlyGluGlyLysSerThrThrThrIleGlyLeuValGlnAlaLeuGlyAlaHisLeuTyrGlnAsnValPheAlaCysValArgGlnProSerGlnGlyProThrPheGlyIleLysGlyGlyAlaAlaGlyGlyGlyTyrSerGlnValIleProMetGluGluPheAsnLeuHisLeuThrGlyAspIleHisAlaIleThrAlaAlaAsnAsnLeuValAlaAlaAlaIleAspAlaArgIlePheHisGluLeuThrGlnThrAspLysAlaLeuPheAsnArgLeuValProSerValAsnGlyValArgArgPheSerAspIleGlnIleArgArgLeuLysArgLeuGlyIleGluLysThrAspProThrThrLeuThrAspGluGluIleAsnArgPheAlaArgLeuAspIleAspProGluThrIleThrTrpGlnArgValLeuAspThrAsnAspArgPheLeuArgLysIleThrIleGlyGlnAlaProThrGluLysGlyHisThrArgThrAlaGlnPheAspIleSerValAlaSerGluIleMetAlaValLeuAlaLeuThrThrSerLeuGluAspMetArgGluArgLeuGlyLysMetValValAlaSerSerLysLysGlyGluProValSerAlaGluAspLeuGlyValSerGlyAlaLeuThrValLeuMetLysAspAlaIleLysProAsnLeuMetGlnThrLeuGluGlyThrProValPheValHisAlaGlyProPheAlaAsnIleAlaHisGlyAsnSerSerIleIleAlaAspArgIleAlaLeuLysLeuValGlyProGluGlyPheValValThrGluAlaGlyPheGlyAlaAspIleGlyMetGluLysPhePheAsnIleLysCysArgTyrSerGlyLeuCysProHisValValValLeuValAlaThrValArgAlaLeuLysMetHisGlyGlyGlyProThrValThrAlaGlyLeuProLeuProLysAlaTyrIleGlnGluAsnLeuGluLeuValGluLysGlyPheSerAsnLeuLysLysGlnIleGluAsnAlaArgMetPheGlyIleProValValValAlaValAsnAlaPheLysThrAspThrGluSerGluLeuAspLeuIleSerArgLeuSerArgGluHisGlyAlaPheAspAlaValLysCysThrHisTrpAlaGluGlyGlyLysGlyAlaLeuAlaLeuAlaGlnAlaValGlnArgAlaAlaGlnAlaProSerSerPheGlnLeuLeuTyrAspLeuLysLeuProValGluAspLysIleArgIleIleAlaGlnLysIleTyrGlyAlaAspAspIleGluLeuLeuProGluAlaGlnHisLysAlaGluValTyrThrLysGlnGlyPheGlyAsnLeuProIleCysMetAlaLysThrHisLeuSerLeuSerHisAsnProGluGlnLysGlyValProThrGlyPheIleLeuProIleArgAspIleArgAlaSerValGlyAlaGlyPheLeuTyrProLeuValGlyThrMetSerThrMetProGlyLeuProThrArgProCysPheTyrAspIleAspLeuAspProGluThrGluGlnValAsnGlyLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525355", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652337.1:c.673G>T" }, "RefSeq": { "hgvs": "NM_005956.4:c.673G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498336.1:p.Glu225Ter" }, "RefSeq": { "hgvs": "NP_005947.3:p.Glu225Ter" } } } } ], "type": "nucleotide" }