{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348651", "communityStandardTitle": [ "NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221054[alleleid]", "alleleId": 221054, "preferredName": "NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219364", "RCV": [ "RCV000204423" ], "variationId": 219364 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94849037G>A?assembly=hg19", "id": "chr14:g.94849037G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94382700G>A?assembly=hg38", "id": "chr14:g.94382700G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/864622051", "rs": 864622051 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-94382700-G-A?dataset=gnomad_r4", "id": "14-94382700-G-A", "variant": "14:94382700 G / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 94382700, "referenceAllele": "G", "start": 94382699 } ], "hgvs": [ "NC_000014.9:g.94382700G>A", "CM000676.2:g.94382700G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 94849037, "referenceAllele": "G", "start": 94849036 } ], "hgvs": [ "NC_000014.8:g.94849037G>A", "CM000676.1:g.94849037G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 93918790, "referenceAllele": "G", "start": 93918789 } ], "hgvs": [ "NC_000014.7:g.93918790G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 12993, "referenceAllele": "C", "start": 12992 } ], "hgvs": [ "NG_008290.1:g.12993C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.9:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Gln180Ter", "hgvsWellDefined": "ENSP00000376802.4:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.538C>T" }, "RefSeq": { "hgvs": "NM_000295.5:c.538C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Gln180Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Gln180Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000636712.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000490054.1:p.Gln180Ter", "hgvsWellDefined": "ENSP00000490054.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763327" }, { "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000355814.8:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000348068.4:p.Gln180Ter", "hgvsWellDefined": "ENSP00000348068.4:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263559" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.8:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Gln180Ter", "hgvsWellDefined": "ENSP00000376802.4:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275446" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393088.8:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000376803.4:p.Gln180Ter", "hgvsWellDefined": "ENSP00000376803.4:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275447" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000402629.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000386094.1:p.Gln180Ter", "hgvsWellDefined": "ENSP00000386094.1:p.Gln180_Pro359delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysValArgSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279575" }, { "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000404814.8:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000385960.4:p.Gln180Ter", "hgvsWellDefined": "ENSP00000385960.4:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280169" }, { "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000437397.5:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000408474.1:p.Gln180Ter", "hgvsWellDefined": "ENSP00000408474.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294442" }, { "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000440909.5:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000390299.1:p.Gln180Ter", "hgvsWellDefined": "ENSP00000390299.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296122" }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000448921.5:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000416066.1:p.Gln180Ter", "hgvsWellDefined": "ENSP00000416066.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299955" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000449399.7:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000416354.3:p.Gln180Ter", "hgvsWellDefined": "ENSP00000416354.3:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300207" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000489769.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000451525.1:p.Gln180Ter", "hgvsWellDefined": "ENSP00000451525.1:p.Gln180_Arg306delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS327757" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000554720.1:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000450561.1:p.Gln94Ter", "hgvsWellDefined": "ENSP00000450561.1:p.Gln94Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS370859" }, { "@id": "http://reg.genome.network/allele/PA2825108561", "coordinates": [ { "allele": "T", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.4:c.538C>T" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Gln180Ter", "hgvsWellDefined": "NP_000286.3:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006356" }, { "@id": "http://reg.genome.network/allele/PA2825244909", "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Gln180Ter", "hgvsWellDefined": "NP_001002235.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007233" }, { "@id": "http://reg.genome.network/allele/PA2825245574", "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Gln180Ter", "hgvsWellDefined": "NP_001002236.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007234" }, { "@id": "http://reg.genome.network/allele/PA2825655620", "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121172.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011682" }, { "@id": "http://reg.genome.network/allele/PA348652", "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121173.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011683" }, { "@id": "http://reg.genome.network/allele/PA2825656119", "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121174.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011684" }, { "@id": "http://reg.genome.network/allele/PA2825656420", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121175.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011685" }, { "@id": "http://reg.genome.network/allele/PA2825656721", "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121176.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011686" }, { "@id": "http://reg.genome.network/allele/PA2825657022", "coordinates": [ { "allele": "T", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121177.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011687" }, { "@id": "http://reg.genome.network/allele/PA2825657323", "coordinates": [ { "allele": "T", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121178.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011688" }, { "@id": "http://reg.genome.network/allele/PA915968305", "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121179.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011689" }, { "coordinates": [ { "allele": "T", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "XM_017021370.1:c.538C>T" ], "proteinEffect": { "hgvs": "XP_016876859.1:p.Gln180Ter", "hgvsWellDefined": "XP_016876859.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572590" }, { "@id": "http://reg.genome.network/allele/PA2825108561", "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.5:c.538C>T" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Gln180Ter", "hgvsWellDefined": "NP_000286.3:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.538C>T" }, "RefSeq": { "hgvs": "NM_000295.5:c.538C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Gln180Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Gln180Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825244909", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Gln180Ter", "hgvsWellDefined": "NP_001002235.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "@id": "http://reg.genome.network/allele/PA2825245574", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Gln180Ter", "hgvsWellDefined": "NP_001002236.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "@id": "http://reg.genome.network/allele/PA2825655620", "coordinates": [ { "allele": "T", "end": 758, "referenceAllele": "C", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121172.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "@id": "http://reg.genome.network/allele/PA348652", "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121173.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "@id": "http://reg.genome.network/allele/PA2825656119", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121174.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "@id": "http://reg.genome.network/allele/PA2825656420", "coordinates": [ { "allele": "T", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121175.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "@id": "http://reg.genome.network/allele/PA2825656721", "coordinates": [ { "allele": "T", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121176.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "@id": "http://reg.genome.network/allele/PA2825657022", "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121177.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "@id": "http://reg.genome.network/allele/PA2825657323", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121178.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "@id": "http://reg.genome.network/allele/PA915968305", "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Gln180Ter", "hgvsWellDefined": "NP_001121179.1:p.Gln180_Lys418delinsIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }