{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1742328387", "communityStandardTitle": [ "NM_000883.4(IMPDH1):c.928A= (p.Thr310=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518949", "rs": 1057518949 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 128398560, "referenceAllele": "T", "start": 128398559 } ], "hgvs": [ "NC_000007.14:g.128398560T=", "CM000669.2:g.128398560T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 128038614, "referenceAllele": "T", "start": 128038613 } ], "hgvs": [ "NC_000007.13:g.128038614T=", "CM000669.1:g.128038614T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 127825850, "referenceAllele": "T", "start": 127825849 } ], "hgvs": [ "NC_000007.12:g.127825850T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 16423, "referenceAllele": "A", "start": 16422 } ], "hgvs": [ "NG_009194.1:g.16423A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001473" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000348127.11:c.820A=" ], "proteinEffect": { "hgvs": "ENSP00000265385.8:p.Thr274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS913970" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "A", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000484496.6:n.803A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS914142" }, { "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "A", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000338791.11:c.928A=" ], "proteinEffect": { "hgvs": "ENSP00000345096.6:p.Thr310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747771", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338791.11:c.928A=" }, "RefSeq": { "hgvs": "NM_000883.4:c.928A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345096.6:p.Thr310=" }, "RefSeq": { "hgvs": "NP_000874.2:p.Thr310=" } } } }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "A", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000648462.1:c.560A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS769995" }, { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000338791.10:c.928A=" ], "proteinEffect": { "hgvs": "ENSP00000345096.6:p.Thr310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260727" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000348127.10:c.820A=" ], "proteinEffect": { "hgvs": "ENSP00000265385.8:p.Thr274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262440" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000354269.9:c.898A=" ], "proteinEffect": { "hgvs": "ENSP00000346219.5:p.Thr300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263064" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "A", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000419067.6:c.829A=" ], "proteinEffect": { "hgvs": "ENSP00000399400.2:p.Thr277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS285703" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "A", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000468842.1:n.517A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS311664" }, { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000469328.5:c.693A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS312032" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "A", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000470772.5:c.670A=" ], "proteinEffect": { "hgvs": "ENSP00000417296.1:p.Thr224=" }, "referenceSequence": "http://reg.genome.network/refseq/RS313130" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000480861.5:c.658A=" ], "proteinEffect": { "hgvs": "ENSP00000420185.1:p.Thr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS320907" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "A", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000484496.5:c.803A=" ], "proteinEffect": { "hgvs": "ENSP00000418742.1:n.803A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS323738" }, { "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "A", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000496200.5:c.598A=" ], "proteinEffect": { "hgvs": "ENSP00000420803.1:p.Thr200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS332734" }, { "coordinates": [ { "allele": "A", "end": 806, "referenceAllele": "A", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000497868.5:c.721A=" ], "proteinEffect": { "hgvs": "ENSP00000419609.1:p.Thr241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS333999" }, { "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "A", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000626419.2:c.670A=" ], "proteinEffect": { "hgvs": "ENSP00000486056.1:p.Thr224=" }, "referenceSequence": "http://reg.genome.network/refseq/RS406735" }, { "@id": "http://reg.genome.network/allele/PA2825211805", "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "A", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_000883.3:c.928A=" ], "proteinEffect": { "hgvs": "NP_000874.2:p.Thr310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006910" }, { "@id": "http://reg.genome.network/allele/PA2825548428", "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001102605.1:c.898A=" ], "proteinEffect": { "hgvs": "NP_001096075.1:p.Thr300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011007" }, { "@id": "http://reg.genome.network/allele/PA2825801950", "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "A", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142573.1:c.673A=" ], "proteinEffect": { "hgvs": "NP_001136045.1:p.Thr225=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012978" }, { "@id": "http://reg.genome.network/allele/PA2825802578", "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "A", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142574.1:c.658A=" ], "proteinEffect": { "hgvs": "NP_001136046.1:p.Thr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012979" }, { "@id": "http://reg.genome.network/allele/PA2825803206", "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "A", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142575.1:c.598A=" ], "proteinEffect": { "hgvs": "NP_001136047.1:p.Thr200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012980" }, { "@id": "http://reg.genome.network/allele/PA2825803909", "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "A", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142576.1:c.829A=" ], "proteinEffect": { "hgvs": "NP_001136048.1:p.Thr277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012981" }, { "@id": "http://reg.genome.network/allele/PA2826894488", "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "A", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001304521.1:c.721A=" ], "proteinEffect": { "hgvs": "NP_001291450.1:p.Thr241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS025748" }, { "@id": "http://reg.genome.network/allele/PA2830411492", "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_183243.2:c.820A=" ], "proteinEffect": { "hgvs": "NP_899066.1:p.Thr274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044251" }, { "coordinates": [ { "allele": "A", "end": 945, "referenceAllele": "A", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_005250314.1:c.697A=" ], "proteinEffect": { "hgvs": "XP_005250371.1:p.Thr233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059143" }, { "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "A", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715967.1:c.928A=" ], "proteinEffect": { "hgvs": "XP_006716030.1:p.Thr310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071438" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715968.1:c.898A=" ], "proteinEffect": { "hgvs": "XP_006716031.1:p.Thr300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071439" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715969.1:c.820A=" ], "proteinEffect": { "hgvs": "XP_006716032.1:p.Thr274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071440" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "A", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715970.2:c.721A=" ], "proteinEffect": { "hgvs": "XP_006716033.1:p.Thr241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071441" }, { "coordinates": [ { "allele": "A", "end": 945, "referenceAllele": "A", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715971.1:c.697A=" ], "proteinEffect": { "hgvs": "XP_006716034.1:p.Thr233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071442" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "A", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_011516156.1:c.310A=" ], "proteinEffect": { "hgvs": "XP_011514458.1:p.Thr104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083359" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "A", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_011516157.1:c.310A=" ], "proteinEffect": { "hgvs": "XP_011514459.1:p.Thr104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083360" }, { "coordinates": [ { "allele": "A", "end": 1097, "referenceAllele": "A", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_017012172.1:c.697A=" ], "proteinEffect": { "hgvs": "XP_016867661.1:p.Thr233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS565830" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_017012173.1:c.898A=" ], "proteinEffect": { "hgvs": "XP_016867662.1:p.Thr300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS565831" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446755.1:c.898A=" ], "proteinEffect": { "hgvs": "XP_024302523.1:p.Thr300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580405" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446756.1:c.820A=" ], "proteinEffect": { "hgvs": "XP_024302524.1:p.Thr274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580406" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "A", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446757.1:c.721A=" ], "proteinEffect": { "hgvs": "XP_024302525.1:p.Thr241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580407" }, { "coordinates": [ { "allele": "A", "end": 1097, "referenceAllele": "A", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446758.1:c.697A=" ], "proteinEffect": { "hgvs": "XP_024302526.1:p.Thr233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580408" }, { "@id": "http://reg.genome.network/allele/PA2825211805", "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "A", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_000883.4:c.928A=" ], "proteinEffect": { "hgvs": "NP_000874.2:p.Thr310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662626", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338791.11:c.928A=" }, "RefSeq": { "hgvs": "NM_000883.4:c.928A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345096.6:p.Thr310=" }, "RefSeq": { "hgvs": "NP_000874.2:p.Thr310=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825548428", "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001102605.2:c.898A=" ], "proteinEffect": { "hgvs": "NP_001096075.1:p.Thr300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676605" }, { "@id": "http://reg.genome.network/allele/PA2825801950", "coordinates": [ { "allele": "A", "end": 804, "referenceAllele": "A", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142573.2:c.673A=" ], "proteinEffect": { "hgvs": "NP_001136045.1:p.Thr225=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677572" }, { "@id": "http://reg.genome.network/allele/PA2825802578", "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "A", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142574.2:c.658A=" ], "proteinEffect": { "hgvs": "NP_001136046.1:p.Thr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677573" }, { "@id": "http://reg.genome.network/allele/PA2825803206", "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142575.2:c.598A=" ], "proteinEffect": { "hgvs": "NP_001136047.1:p.Thr200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677574" }, { "@id": "http://reg.genome.network/allele/PA2825803909", "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "A", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142576.2:c.829A=" ], "proteinEffect": { "hgvs": "NP_001136048.1:p.Thr277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677575" }, { "@id": "http://reg.genome.network/allele/PA2826894488", "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001304521.2:c.721A=" ], "proteinEffect": { "hgvs": "NP_001291450.1:p.Thr241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS683712" }, { "@id": "http://reg.genome.network/allele/PA2830411492", "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_183243.3:c.820A=" ], "proteinEffect": { "hgvs": "NP_899066.1:p.Thr274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701171" } ], "type": "nucleotide" }