{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390849979", "communityStandardTitle": [ "NM_000295.5(SERPINA1):c.420T>A (p.Asn140Lys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94849155A>T?assembly=hg19", "id": "chr14:g.94849155A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94382818A>T?assembly=hg38", "id": "chr14:g.94382818A>T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94382818, "referenceAllele": "A", "start": 94382817 } ], "hgvs": [ "NC_000014.9:g.94382818A>T", "CM000676.2:g.94382818A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94849155, "referenceAllele": "A", "start": 94849154 } ], "hgvs": [ "NC_000014.8:g.94849155A>T", "CM000676.1:g.94849155A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 93918908, "referenceAllele": "A", "start": 93918907 } ], "hgvs": [ "NC_000014.7:g.93918908A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 12875, "referenceAllele": "T", "start": 12874 } ], "hgvs": [ "NG_008290.1:g.12875T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.9:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Asn140Lys", "hgvsWellDefined": "ENSP00000376802.4:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.420T>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.420T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Asn140Lys" }, "RefSeq": { "hgvs": "NP_000286.3:p.Asn140Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000636712.1:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000490054.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000490054.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763327" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000355814.8:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000348068.4:p.Asn140Lys", "hgvsWellDefined": "ENSP00000348068.4:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS263559" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "T", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.8:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Asn140Lys", "hgvsWellDefined": "ENSP00000376802.4:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275446" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "T", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393088.8:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000376803.4:p.Asn140Lys", "hgvsWellDefined": "ENSP00000376803.4:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275447" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000402629.1:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000386094.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000386094.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS279575" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "T", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000404814.8:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000385960.4:p.Asn140Lys", "hgvsWellDefined": "ENSP00000385960.4:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS280169" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "T", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000437397.5:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000408474.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000408474.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS294442" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "T", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000440909.5:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000390299.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000390299.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS296122" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "T", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000448921.5:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000416066.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000416066.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS299955" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "T", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000449399.7:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000416354.3:p.Asn140Lys", "hgvsWellDefined": "ENSP00000416354.3:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS300207" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "T", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000489769.1:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000451525.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000451525.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS327757" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "T", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000554720.1:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000450561.1:p.Asn54Lys", "hgvsWellDefined": "ENSP00000450561.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS370859" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "T", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000556091.1:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000452169.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000452169.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS371949" }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000557492.5:c.420T>A" ], "proteinEffect": { "hgvs": "ENSP00000452452.1:p.Asn140Lys", "hgvsWellDefined": "ENSP00000452452.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS373075" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "T", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.4:c.420T>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Asn140Lys", "hgvsWellDefined": "NP_000286.3:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006356" }, { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "T", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Asn140Lys", "hgvsWellDefined": "NP_001002235.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS007233" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "T", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Asn140Lys", "hgvsWellDefined": "NP_001002236.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS007234" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121172.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011682" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "T", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121173.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011683" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "T", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121174.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011684" }, { "coordinates": [ { "allele": "A", "end": 956, "referenceAllele": "T", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121175.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011685" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "T", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121176.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011686" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121177.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011687" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "T", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121178.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011688" }, { "coordinates": [ { "allele": "A", "end": 761, "referenceAllele": "T", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.1:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121179.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011689" }, { "coordinates": [ { "allele": "A", "end": 861, "referenceAllele": "T", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "XM_017021370.1:c.420T>A" ], "proteinEffect": { "hgvs": "XP_016876859.1:p.Asn140Lys", "hgvsWellDefined": "XP_016876859.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS572590" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.5:c.420T>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Asn140Lys", "hgvsWellDefined": "NP_000286.3:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.420T>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.420T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Asn140Lys" }, "RefSeq": { "hgvs": "NP_000286.3:p.Asn140Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "T", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Asn140Lys", "hgvsWellDefined": "NP_001002235.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "coordinates": [ { "allele": "A", "end": 917, "referenceAllele": "T", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Asn140Lys", "hgvsWellDefined": "NP_001002236.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "T", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121172.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "T", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121173.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "T", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121174.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "T", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121175.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "T", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121176.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "T", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121177.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "T", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121178.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "T", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.420T>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Asn140Lys", "hgvsWellDefined": "NP_001121179.1:p.Asn140Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }