{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1142009200", "communityStandardTitle": [ "NM_001375584.1(SMG7):c.394A= (p.Lys132=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/144712473", "rs": 144712473 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 183526677, "referenceAllele": "A", "start": 183526676 } ], "hgvs": [ "NC_000001.11:g.183526677A=", "CM000663.2:g.183526677A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 183495812, "referenceAllele": "A", "start": 183495811 } ], "hgvs": [ "NC_000001.10:g.183495812A=", "CM000663.1:g.183495812A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 181762435, "referenceAllele": "A", "start": 181762434 } ], "hgvs": [ "NC_000001.9:g.181762435A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 59307, "referenceAllele": "A", "start": 59306 } ], "hgvs": [ "NG_029808.1:g.59307A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS004675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000685780.1:c.481A=" ], "proteinEffect": { "hgvs": "ENSP00000508915.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830246" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000688051.1:c.394A=" ], "proteinEffect": { "hgvs": "ENSP00000510175.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831412", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000688051.1:c.394A=" }, "RefSeq": { "hgvs": "NM_001375584.1:c.394A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000510175.1:p.Lys132=" }, "RefSeq": { "hgvs": "NP_001362513.1:p.Lys132=" } } } }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000347615.6:c.394A=" ], "proteinEffect": { "hgvs": "ENSP00000340766.2:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262381" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "A", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000367537.7:c.481A=" ], "proteinEffect": { "hgvs": "ENSP00000356507.3:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266442" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "A", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000419169.5:c.268A=" ], "proteinEffect": { "hgvs": "ENSP00000388390.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS285756" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "A", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000440812.7:c.394A=" ], "proteinEffect": { "hgvs": "ENSP00000410254.3:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS296072" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "A", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000444547.6:c.*234A=" ], "proteinEffect": { "hgvs": "ENSP00000400220.2:n.*234A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS297868" }, { "coordinates": [ { "allele": "A", "end": 149, "referenceAllele": "A", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000507406.1:n.149A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS338702" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "A", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000507469.5:c.394A=" ], "proteinEffect": { "hgvs": "ENSP00000425133.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS338748" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "A", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000508461.5:c.268A=" ], "proteinEffect": { "hgvs": "ENSP00000426915.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS339478" }, { "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "A", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000515829.6:c.394A=" ], "proteinEffect": { "hgvs": "ENSP00000421358.2:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS344963" }, { "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "A", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001174061.1:c.268A=" ], "proteinEffect": { "hgvs": "NP_001167532.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015642" }, { "@id": "http://reg.genome.network/allele/PA3063954979", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "A", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_173156.2:c.394A=" ], "proteinEffect": { "hgvs": "NP_775179.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS042777" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "A", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_201568.2:c.394A=" ], "proteinEffect": { "hgvs": "NP_963862.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS045066" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "A", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_201569.2:c.394A=" ], "proteinEffect": { "hgvs": "NP_963863.2:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS045067" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "A", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245648.2:c.481A=" ], "proteinEffect": { "hgvs": "XP_005245705.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057317" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "A", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245649.2:c.481A=" ], "proteinEffect": { "hgvs": "XP_005245706.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057318" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245652.2:c.394A=" ], "proteinEffect": { "hgvs": "XP_005245709.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057319" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245653.3:c.340A=" ], "proteinEffect": { "hgvs": "XP_005245710.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057320" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "A", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_006711676.2:c.481A=" ], "proteinEffect": { "hgvs": "XP_006711739.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS069255" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_006711678.2:c.394A=" ], "proteinEffect": { "hgvs": "XP_006711741.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS069256" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "A", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510205.1:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508507.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077470" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "A", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510206.1:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508508.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077471" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "A", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510207.1:c.340A=" ], "proteinEffect": { "hgvs": "XP_011508509.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077472" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "A", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510208.1:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508510.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077473" }, { "coordinates": [ { "allele": "A", "end": 900, "referenceAllele": "A", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510209.1:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508511.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077474" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "A", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510210.1:c.268A=" ], "proteinEffect": { "hgvs": "XP_011508512.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077475" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510211.1:c.-718A=" ], "proteinEffect": { "hgvs": "XP_011508513.1:n.-718A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077476" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "A", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001331007.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001317936.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS517130" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "A", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350219.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001337148.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519198" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "A", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350220.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001337149.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519199" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "A", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350221.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001337150.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519200" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350222.1:c.-612A=" ], "proteinEffect": { "hgvs": "NP_001337151.1:n.-612A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519201" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245649.4:c.481A=" ], "proteinEffect": { "hgvs": "XP_005245706.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS532472" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245652.3:c.394A=" ], "proteinEffect": { "hgvs": "XP_005245709.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS532473" }, { "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "A", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_005245653.5:c.340A=" ], "proteinEffect": { "hgvs": "XP_005245710.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS532474" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_006711678.3:c.394A=" ], "proteinEffect": { "hgvs": "XP_006711741.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS538067" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "A", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510205.3:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508507.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541632" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "A", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510206.3:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508508.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541633" }, { "coordinates": [ { "allele": "A", "end": 1200, "referenceAllele": "A", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510207.3:c.340A=" ], "proteinEffect": { "hgvs": "XP_011508509.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541634" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "A", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510208.3:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508510.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541635" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "A", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510209.3:c.481A=" ], "proteinEffect": { "hgvs": "XP_011508511.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541636" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "A", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_011510210.2:c.268A=" ], "proteinEffect": { "hgvs": "XP_011508512.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541637" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "A", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_017002968.2:c.268A=" ], "proteinEffect": { "hgvs": "XP_016858457.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS558827" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_017002969.1:c.-612A=" ], "proteinEffect": { "hgvs": "XP_016858458.1:n.-612A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS558828" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "XM_017002970.1:c.-536A=" ], "proteinEffect": { "hgvs": "XP_016858459.1:n.-536A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS558829" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001174061.2:c.268A=" ], "proteinEffect": { "hgvs": "NP_001167532.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678839" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001331007.2:c.481A=" ], "proteinEffect": { "hgvs": "NP_001317936.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687130" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350219.2:c.481A=" ], "proteinEffect": { "hgvs": "NP_001337148.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688260" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350220.2:c.481A=" ], "proteinEffect": { "hgvs": "NP_001337149.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688261" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350221.2:c.481A=" ], "proteinEffect": { "hgvs": "NP_001337150.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688262" }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "A", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001350222.2:c.-612A=" ], "proteinEffect": { "hgvs": "NP_001337151.1:n.-612A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688263" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001375584.1:c.394A=" ], "proteinEffect": { "hgvs": "NP_001362513.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693680", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000688051.1:c.394A=" }, "RefSeq": { "hgvs": "NM_001375584.1:c.394A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000510175.1:p.Lys132=" }, "RefSeq": { "hgvs": "NP_001362513.1:p.Lys132=" } } } }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001375585.1:c.394A=" ], "proteinEffect": { "hgvs": "NP_001362514.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693681" }, { "@id": "http://reg.genome.network/allele/PA3063954979", "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_173156.3:c.394A=" ], "proteinEffect": { "hgvs": "NP_775179.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS700554" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_201568.3:c.394A=" ], "proteinEffect": { "hgvs": "NP_963862.1:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701573" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_201569.3:c.394A=" ], "proteinEffect": { "hgvs": "NP_963863.2:p.Lys132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701574" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394133.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001381062.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727024" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394134.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001381063.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727025" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394135.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001381064.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727026" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394136.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001381065.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727027" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "A", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394137.1:c.268A=" ], "proteinEffect": { "hgvs": "NP_001381066.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727028" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394138.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001381067.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727029" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394139.1:c.481A=" ], "proteinEffect": { "hgvs": "NP_001381068.1:p.Lys161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727030" }, { "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "A", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394140.1:c.340A=" ], "proteinEffect": { "hgvs": "NP_001381069.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727031" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394141.1:c.268A=" ], "proteinEffect": { "hgvs": "NP_001381070.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727032" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "A", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394142.1:c.268A=" ], "proteinEffect": { "hgvs": "NP_001381071.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727033" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394143.1:c.268A=" ], "proteinEffect": { "hgvs": "NP_001381072.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727034" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394144.1:c.226A=" ], "proteinEffect": { "hgvs": "NP_001381073.1:p.Lys76=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727035" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "A", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394145.1:c.340A=" ], "proteinEffect": { "hgvs": "NP_001381074.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727036" }, { "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "A", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394146.1:c.340A=" ], "proteinEffect": { "hgvs": "NP_001381075.1:p.Lys114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727037" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "NM_001394147.1:c.268A=" ], "proteinEffect": { "hgvs": "NP_001381076.1:p.Lys90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727038" } ], "type": "nucleotide" }