{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7327531", "communityStandardTitle": [ "NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358274[alleleid]", "alleleId": 358274, "preferredName": "NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371266", "RCV": [ "RCV000409474" ], "variationId": 371266 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-94849389-G-T", "id": "14-94849389-G-T", "variant": "14:94849389 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94849389G>T?assembly=hg19", "id": "chr14:g.94849389G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94383052G>T?assembly=hg38", "id": "chr14:g.94383052G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/762321137", "rs": 762321137 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-94849389-G-T?dataset=gnomad_r2_1", "id": "14-94849389-G-T", "variant": "14:94849389 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-94383052-G-T?dataset=gnomad_r4", "id": "14-94383052-G-T", "variant": "14:94383052 G / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94383052, "referenceAllele": "G", "start": 94383051 } ], "hgvs": [ "NC_000014.9:g.94383052G>T", "CM000676.2:g.94383052G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94849389, "referenceAllele": "G", "start": 94849388 } ], "hgvs": [ "NC_000014.8:g.94849389G>T", "CM000676.1:g.94849389G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 93919142, "referenceAllele": "G", "start": 93919141 } ], "hgvs": [ "NC_000014.7:g.93919142G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 12641, "referenceAllele": "C", "start": 12640 } ], "hgvs": [ "NG_008290.1:g.12641C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 233, "referenceAllele": "C", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.9:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000376802.4:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.186C>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.186C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Tyr62Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Tyr62Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000636712.1:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000490054.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000490054.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763327" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000355814.8:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000348068.4:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000348068.4:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263559" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.8:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000376802.4:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275446" }, { "coordinates": [ { "allele": "A", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393088.8:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000376803.4:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000376803.4:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275447" }, { "coordinates": [ { "allele": "A", "end": 220, "referenceAllele": "C", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000402629.1:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000386094.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000386094.1:p.Tyr62_Pro359delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysValArgSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279575" }, { "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000404814.8:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000385960.4:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000385960.4:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280169" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000437397.5:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000408474.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000408474.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294442" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000440909.5:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000390299.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000390299.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296122" }, { "coordinates": [ { "allele": "A", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000448921.5:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000416066.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000416066.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299955" }, { "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000449399.7:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000416354.3:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000416354.3:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300207" }, { "coordinates": [ { "allele": "A", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000489769.1:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000451525.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000451525.1:p.Tyr62_Arg306delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS327757" }, { "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000553327.5:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000452480.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000452480.1:p.Tyr62Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS369772" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "-", "endIntronOffset": 49, "referenceAllele": "C", "start": 106, "startIntronDirection": "-", "startIntronOffset": 50 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000554720.1:c.-23-50C>A" ], "proteinEffect": { "hgvs": "ENSP00000450561.1:n.-23-50C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS370859" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000556091.1:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000452169.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000452169.1:p.Tyr62Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS371949" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000556955.5:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000451098.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000451098.1:p.Tyr62_His117del" }, "referenceSequence": "http://reg.genome.network/refseq/RS372627" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "C", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000557492.5:c.186C>A" ], "proteinEffect": { "hgvs": "ENSP00000452452.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000452452.1:p.Tyr62Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373075" }, { "@id": "http://reg.genome.network/allele/PA2825108462", "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.4:c.186C>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Tyr62Ter", "hgvsWellDefined": "NP_000286.3:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006356" }, { "@id": "http://reg.genome.network/allele/PA2825244761", "coordinates": [ { "allele": "A", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001002235.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007233" }, { "@id": "http://reg.genome.network/allele/PA2825245386", "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001002236.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007234" }, { "@id": "http://reg.genome.network/allele/PA2825655540", "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121172.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011682" }, { "@id": "http://reg.genome.network/allele/PA645467123", "coordinates": [ { "allele": "A", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121173.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011683" }, { "@id": "http://reg.genome.network/allele/PA2825656039", "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121174.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011684" }, { "@id": "http://reg.genome.network/allele/PA2825656340", "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121175.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011685" }, { "@id": "http://reg.genome.network/allele/PA2825656641", "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121176.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011686" }, { "@id": "http://reg.genome.network/allele/PA2825656942", "coordinates": [ { "allele": "A", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121177.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011687" }, { "@id": "http://reg.genome.network/allele/PA2825657243", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121178.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011688" }, { "@id": "http://reg.genome.network/allele/PA915968215", "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.1:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121179.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011689" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "XM_017021370.1:c.186C>A" ], "proteinEffect": { "hgvs": "XP_016876859.1:p.Tyr62Ter", "hgvsWellDefined": "XP_016876859.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572590" }, { "@id": "http://reg.genome.network/allele/PA2825108462", "coordinates": [ { "allele": "A", "end": 233, "referenceAllele": "C", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.5:c.186C>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Tyr62Ter", "hgvsWellDefined": "NP_000286.3:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.186C>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.186C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Tyr62Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Tyr62Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825244761", "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001002235.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "@id": "http://reg.genome.network/allele/PA2825245386", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001002236.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "@id": "http://reg.genome.network/allele/PA2825655540", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121172.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "@id": "http://reg.genome.network/allele/PA645467123", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121173.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "@id": "http://reg.genome.network/allele/PA2825656039", "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121174.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "@id": "http://reg.genome.network/allele/PA2825656340", "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121175.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "@id": "http://reg.genome.network/allele/PA2825656641", "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121176.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "@id": "http://reg.genome.network/allele/PA2825656942", "coordinates": [ { "allele": "A", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121177.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "@id": "http://reg.genome.network/allele/PA2825657243", "coordinates": [ { "allele": "A", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121178.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "@id": "http://reg.genome.network/allele/PA915968215", "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.186C>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Tyr62Ter", "hgvsWellDefined": "NP_001121179.1:p.Tyr62_Lys418delinsArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }