{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA149822", "communityStandardTitle": [ "NM_000431.4(MVK):c.37A>T (p.Lys13Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103477[alleleid]", "alleleId": 103477, "preferredName": "NM_000431.4(MVK):c.37A>T (p.Lys13Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97585", "RCV": [ "RCV000083837" ], "variationId": 97585 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-110012664-A-T", "id": "12-110012664-A-T", "variant": "12:110012664 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.110012664A>T?assembly=hg19", "id": "chr12:g.110012664A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.109574859A>T?assembly=hg38", "id": "chr12:g.109574859A>T" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS248629" }, { "coordinates": [ { "allele": "T", "end": 88, "referenceAllele": "A", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "ENST00000392727.7:c.37A>T" ], "proteinEffect": { "hgvs": "ENSP00000376487.3:p.Lys13Ter", "hgvsWellDefined": 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"ENSP00000443978.1:p.Lys13_Ser83delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGlyGlyProArgArgIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365278" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "ENST00000546277.5:c.37A>T" ], "proteinEffect": { "hgvs": "ENSP00000438153.1:p.Lys13Ter", "hgvsWellDefined": "ENSP00000438153.1:p.Lys13_Ser201del" }, "referenceSequence": "http://reg.genome.network/refseq/RS365540" }, { "coordinates": [ { "allele": "T", "end": 53, "referenceAllele": "A", "start": 52 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "ENST00000625889.2:c.37A>T" ], "proteinEffect": { "hgvs": "ENSP00000486846.1:p.Lys13Ter", "hgvsWellDefined": "ENSP00000486846.1:p.Lys13_Leu344delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406638" }, { "coordinates": [ { "allele": "T", "end": 53, "referenceAllele": "A", "start": 52 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "ENST00000629016.2:c.37A>T" ], "proteinEffect": { "hgvs": "ENSP00000486804.1:p.Lys13Ter", "hgvsWellDefined": "ENSP00000486804.1:p.Lys13_Ser83delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGlyGlyProArgArgIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407151" }, { "@id": "http://reg.genome.network/allele/PA149824", "coordinates": [ { "allele": "T", "end": 230, "referenceAllele": "A", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_000431.3:c.37A>T" ], "proteinEffect": { "hgvs": "NP_000422.1:p.Lys13Ter", "hgvsWellDefined": "NP_000422.1:p.Lys13_Leu396delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006493" }, { "@id": "http://reg.genome.network/allele/PA2825570699", "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "A", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_001114185.2:c.37A>T" ], "proteinEffect": { "hgvs": "NP_001107657.1:p.Lys13Ter", "hgvsWellDefined": "NP_001107657.1:p.Lys13_Leu396delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011315" }, { "@id": "http://reg.genome.network/allele/PA916019139", "coordinates": [ { "allele": "T", "end": 230, "referenceAllele": "A", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_001301182.1:c.37A>T" ], "proteinEffect": { "hgvs": "NP_001288111.1:p.Lys13Ter", "hgvsWellDefined": "NP_001288111.1:p.Lys13_Leu344delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025140" }, { "coordinates": [ { "allele": "T", "end": 270, "referenceAllele": "A", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "XM_011538372.1:c.37A>T" ], "proteinEffect": { "hgvs": "XP_011536674.1:p.Lys13Ter", "hgvsWellDefined": "XP_011536674.1:p.Lys13_Leu396delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105329" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "A", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "XM_017019313.2:c.37A>T" ], "proteinEffect": { "hgvs": "XP_016874802.1:p.Lys13Ter", "hgvsWellDefined": "XP_016874802.1:p.Lys13_Leu344delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571050" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "A", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "XM_017019314.1:c.37A>T" ], "proteinEffect": { "hgvs": "XP_016874803.1:p.Lys13Ter", "hgvsWellDefined": "XP_016874803.1:p.Lys13_Leu396delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571051" }, { "coordinates": [ { "allele": "T", "end": 162, "referenceAllele": "A", "start": 161 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "XM_024448982.1:c.37A>T" ], "proteinEffect": { "hgvs": "XP_024304750.1:p.Lys13Ter", "hgvsWellDefined": "XP_024304750.1:p.Lys13_Phe389delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluValArgAlaCysLeuGlnGluProGlyLeuLeuSerProHisHisCysProArgGlnTrpLeuCysAsnLeuAlaValLeuArgIleProArgLysLeuAlaHisArgGlyGlnAspLeuProLeuAlaTyrAlaLeuSerTrpAlaGlnValCysAlaCysHisIleSerValSerTyrPheGlnAlaSerSerTrpValIleProSerAsnTrpGluSerAlaArgGluAlaArgAlaTrpLeuValLeuSerAlaMetGluThrGlyLeuGlyHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582547" }, { "@id": "http://reg.genome.network/allele/PA149824", "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "A", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_000431.4:c.37A>T" ], "proteinEffect": { "hgvs": "NP_000422.1:p.Lys13Ter", "hgvsWellDefined": "NP_000422.1:p.Lys13_Leu396delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662441", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000228510.8:c.37A>T" }, "RefSeq": { "hgvs": "NM_000431.4:c.37A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000228510.3:p.Lys13Ter" }, "RefSeq": { "hgvs": "NP_000422.1:p.Lys13Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825570699", "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "A", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_001114185.3:c.37A>T" ], "proteinEffect": { "hgvs": "NP_001107657.1:p.Lys13Ter", "hgvsWellDefined": "NP_001107657.1:p.Lys13_Leu396delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgAlaLeuProSerLeuAspIleValValTrpSerGluLeuProProGlyAlaGlyLeuGlySerSerAlaAlaTyrSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676743" }, { "@id": "http://reg.genome.network/allele/PA916019139", "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "A", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_001301182.2:c.37A>T" ], "proteinEffect": { "hgvs": "NP_001288111.1:p.Lys13Ter", "hgvsWellDefined": "NP_001288111.1:p.Lys13_Leu344delinsValIleLeuHisGlyGluHisAlaValValHisGlyLysValAlaLeuAlaValSerLeuAsnLeuArgThrPheLeuArgLeuGlnProHisSerAsnGlyLysValAspLeuSerLeuProAsnIleGlyIleLysArgAlaTrpAspValAlaArgLeuGlnSerLeuAspThrSerPheLeuGluGlnGlyAspValThrThrProThrSerGluGlnValGluLysLeuLysGluValAlaGlyLeuProAspAspCysAlaValThrGluArgLeuAlaValLeuAlaPheLeuTyrLeuTyrLeuSerIleCysArgLysGlnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683373" } ], "type": "nucleotide" }