{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA236144", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188963[alleleid]", "alleleId": 188963, "preferredName": "NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191160", "RCV": [ "RCV000171344", "RCV003137701" ], "variationId": 191160 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-31016207-C-A", "id": "20-31016207-C-A", "variant": "20:31016207 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31016207C>A?assembly=hg19", "id": "chr20:g.31016207C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32428404C>A?assembly=hg38", "id": "chr20:g.32428404C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/750955319", "rs": 750955319 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-31016207-C-A?dataset=gnomad_r2_1", "id": "20-31016207-C-A", "variant": "20:31016207 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32428404-C-A?dataset=gnomad_r4", "id": "20-32428404-C-A", "variant": "20:32428404 C / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 32428404, "referenceAllele": "C", "start": 32428403 } ], "hgvs": [ "NC_000020.11:g.32428404C>A", "CM000682.2:g.32428404C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 31016207, "referenceAllele": "C", "start": 31016206 } ], "hgvs": [ "NC_000020.10:g.31016207C>A", "CM000682.1:g.31016207C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 30479868, "referenceAllele": "C", "start": 30479867 } ], "hgvs": [ "NC_000020.9:g.30479868C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 75061, "referenceAllele": "C", "start": 75060 } ], "hgvs": [ "NG_027868.1:g.75061C>A", "LRG_630:g.75061C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.453C>A" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Ser151Arg", "hgvsWellDefined": "ENSP00000364839.4:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.453C>A" }, "RefSeq": { "hgvs": "NM_015338.6:c.453C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Ser151Arg" }, "RefSeq": { "hgvs": "NP_056153.2:p.Ser151Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000470145.3:n.472C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756991" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000643168.1:c.369C>A" ], "proteinEffect": { "hgvs": "ENSP00000495003.1:p.Ser123Arg", "hgvsWellDefined": "ENSP00000495003.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS767131" }, { "coordinates": [ { "allele": "A", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000644587.1:c.*292C>A" ], "proteinEffect": { "hgvs": "ENSP00000494813.1:n.*292C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767889" }, { "coordinates": [ { "allele": "A", "end": 157, "referenceAllele": "C", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000644615.1:n.157C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767902" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000645514.1:n.277C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768392" }, { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.423C>A" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Ser141Arg", "hgvsWellDefined": "ENSP00000495053.1:p.Ser141Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.453C>A" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:p.Ser151Arg", "hgvsWellDefined": "ENSP00000499150.1:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.438C>A" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Ser146Arg", "hgvsWellDefined": "ENSP00000305119.5:p.Ser146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.453C>A" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Ser151Arg", "hgvsWellDefined": "ENSP00000364839.4:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000470145.2:n.472C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312655" }, { "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.453C>A" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Ser151Arg", "hgvsWellDefined": "ENSP00000480487.1:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.453C>A" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Ser151Arg", "hgvsWellDefined": "ENSP00000481978.1:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA236146", "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.453C>A", "LRG_630t1:c.453C>A" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Ser151Arg", "hgvsWellDefined": "NP_056153.2:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.450C>A" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Ser150Arg", "hgvsWellDefined": "XP_006723790.1:p.Ser150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.423C>A" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Ser141Arg", "hgvsWellDefined": "XP_006723791.1:p.Ser141Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.369C>A" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Ser123Arg", "hgvsWellDefined": "XP_006723793.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.423C>A" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Ser141Arg", "hgvsWellDefined": "XP_006723795.1:p.Ser141Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.717C>A" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Ser239Arg", "hgvsWellDefined": "XP_011526949.1:p.Ser239Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "C", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.714C>A" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Ser238Arg", "hgvsWellDefined": "XP_011526950.1:p.Ser238Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.633C>A" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Ser211Arg", "hgvsWellDefined": "XP_011526951.1:p.Ser211Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.717C>A" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Ser239Arg", "hgvsWellDefined": "XP_011526952.1:p.Ser239Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.432C>A" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Ser144Arg", "hgvsWellDefined": "XP_011526953.1:p.Ser144Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.369C>A" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Ser123Arg", "hgvsWellDefined": "XP_011526954.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107476", "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.423C>A" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Ser141Arg", "hgvsWellDefined": "NP_001350663.1:p.Ser141Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.450C>A" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Ser150Arg", "hgvsWellDefined": "XP_006723790.1:p.Ser150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.423C>A" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Ser141Arg", "hgvsWellDefined": "XP_006723791.1:p.Ser141Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.369C>A" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Ser123Arg", "hgvsWellDefined": "XP_006723793.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.714C>A" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Ser238Arg", "hgvsWellDefined": "XP_011526950.1:p.Ser238Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "A", "end": 1827, "referenceAllele": "C", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.369C>A" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Ser123Arg", "hgvsWellDefined": "XP_011526954.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "A", "end": 1950, "referenceAllele": "C", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.369C>A" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Ser123Arg", "hgvsWellDefined": "XP_016883193.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.369C>A" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Ser123Arg", "hgvsWellDefined": "XP_016883194.1:p.Ser123Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.453C>A" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Ser151Arg", "hgvsWellDefined": "XP_016883195.1:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA236146", "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.453C>A" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Ser151Arg", "hgvsWellDefined": "NP_056153.2:p.Ser151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.453C>A" }, "RefSeq": { "hgvs": "NM_015338.6:c.453C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Ser151Arg" }, "RefSeq": { "hgvs": "NP_056153.2:p.Ser151Arg" } } } } ], "type": "nucleotide" }