{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA204051", "communityStandardTitle": [ "NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200987[alleleid]", "alleleId": 200987, "preferredName": "NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204597", "RCV": [ "RCV000186594" ], "variationId": 204597 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.58924652A>T?assembly=hg19", "id": "chr14:g.58924652A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.58457934A>T?assembly=hg38", "id": "chr14:g.58457934A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/796052129", "rs": 796052129 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-58924652-A-T?dataset=gnomad_r2_1", "id": "14-58924652-A-T", "variant": "14:58924652 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-58457934-A-T?dataset=gnomad_r4", "id": "14-58457934-A-T", "variant": "14:58457934 A / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 58457934, "referenceAllele": "A", "start": 58457933 } ], "hgvs": [ "NC_000014.9:g.58457934A>T", "CM000676.2:g.58457934A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 58924652, "referenceAllele": "A", "start": 58924651 } ], "hgvs": [ "NC_000014.8:g.58924652A>T", "CM000676.1:g.58924652A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 57994405, "referenceAllele": "A", "start": 57994404 } ], "hgvs": [ "NC_000014.7:g.57994405A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 35550, "referenceAllele": "A", "start": 35549 } ], "hgvs": [ "NG_051335.2:g.35550A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616961" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1551, "referenceAllele": "A", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000619722.5:c.1283A>T" ], "proteinEffect": { "hgvs": "ENSP00000481936.1:p.Asp428Val", "hgvsWellDefined": "ENSP00000481936.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762242" }, { "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000650845.1:n.2084A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS771347" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "A", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000650904.1:c.1538A>T" ], "proteinEffect": { "hgvs": "ENSP00000498606.1:p.Asp513Val", "hgvsWellDefined": "ENSP00000498606.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS771375" }, { "coordinates": [ { "allele": "T", "end": 287, "referenceAllele": "A", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000651759.1:c.287A>T" ], "proteinEffect": { "hgvs": "ENSP00000498415.1:p.Asp96Val", "hgvsWellDefined": "ENSP00000498415.1:p.Asp96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS771840" }, { "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "A", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000651937.1:c.1493A>T" ], "proteinEffect": { "hgvs": "ENSP00000498785.1:p.Asp498Val", "hgvsWellDefined": "ENSP00000498785.1:p.Asp498Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS771939" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "A", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000652120.1:n.1290A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772036" }, { "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000652326.2:c.1538A>T" ], "proteinEffect": { "hgvs": "ENSP00000498929.1:p.Asp513Val", "hgvsWellDefined": "ENSP00000498929.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS772145", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652326.2:c.1538A>T" }, "RefSeq": { "hgvs": "NM_001329943.3:c.1538A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498929.1:p.Asp513Val" }, "RefSeq": { "hgvs": "NP_001316872.1:p.Asp513Val" } } } }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "A", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000652732.1:c.*1104A>T" ], "proteinEffect": { "hgvs": "ENSP00000498799.1:n.*1104A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772377" }, { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "A", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000261244.9:c.1538A>T" ], "proteinEffect": { "hgvs": "ENSP00000261244.5:p.Asp513Val", "hgvsWellDefined": "ENSP00000261244.5:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS250697" }, { "coordinates": [ { "allele": "T", "end": 1941, "referenceAllele": "A", "start": 1940 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000354386.10:c.1697A>T" ], "proteinEffect": { "hgvs": "ENSP00000346359.6:p.Asp566Val", "hgvsWellDefined": "ENSP00000346359.6:p.Asp566Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS263106" }, { "coordinates": [ { "allele": "T", "end": 1664, "referenceAllele": "A", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000423743.7:c.1406A>T" ], "proteinEffect": { "hgvs": "ENSP00000399427.3:p.Asp469Val", "hgvsWellDefined": "ENSP00000399427.3:p.Asp469Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS287917" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "A", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000538571.6:n.1128A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS361394" }, { "coordinates": [ { "allele": "T", "end": 1907, "referenceAllele": "A", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000556134.5:c.1406A>T" ], "proteinEffect": { "hgvs": "ENSP00000452351.2:p.Asp469Val", "hgvsWellDefined": "ENSP00000452351.2:p.Asp469Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS371980" }, { "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "A", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000619416.4:c.1493A>T" ], "proteinEffect": { "hgvs": "ENSP00000478083.1:p.Asp498Val", "hgvsWellDefined": "ENSP00000478083.1:p.Asp498Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS404374" }, { "coordinates": [ { "allele": "T", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "ENST00000619722.4:c.1283A>T" ], "proteinEffect": { "hgvs": "ENSP00000481936.1:p.Asp428Val", "hgvsWellDefined": "ENSP00000481936.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS404492" }, { "@id": "http://reg.genome.network/allele/PA204052", "coordinates": [ { "allele": "T", "end": 1941, "referenceAllele": "A", "start": 1940 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244189.1:c.1697A>T" ], "proteinEffect": { "hgvs": "NP_001231118.1:p.Asp566Val", "hgvsWellDefined": "NP_001231118.1:p.Asp566Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS018669" }, { "@id": "http://reg.genome.network/allele/PA2826354552", "coordinates": [ { "allele": "T", "end": 1784, "referenceAllele": "A", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244190.1:c.1493A>T" ], "proteinEffect": { "hgvs": "NP_001231119.1:p.Asp498Val", "hgvsWellDefined": "NP_001231119.1:p.Asp498Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS018670" }, { "@id": "http://reg.genome.network/allele/PA2826356156", "coordinates": [ { "allele": "T", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244191.1:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001231120.1:p.Asp428Val", "hgvsWellDefined": "NP_001231120.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS018671" }, { "@id": "http://reg.genome.network/allele/PA2826357812", "coordinates": [ { "allele": "T", "end": 1715, "referenceAllele": "A", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244192.1:c.1406A>T" ], "proteinEffect": { "hgvs": "NP_001231121.1:p.Asp469Val", "hgvsWellDefined": "NP_001231121.1:p.Asp469Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS018672" }, { "@id": "http://reg.genome.network/allele/PA2826359302", "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "A", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244193.1:c.1118A>T" ], "proteinEffect": { "hgvs": "NP_001231122.1:p.Asp373Val", "hgvsWellDefined": "NP_001231122.1:p.Asp373Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS018673" }, { "@id": "http://reg.genome.network/allele/PA2829782593", "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "A", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_014749.3:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_055564.3:p.Asp513Val", "hgvsWellDefined": "NP_055564.3:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS033431" }, { "@id": "http://reg.genome.network/allele/PA2827277359", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329943.2:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316872.1:p.Asp513Val", "hgvsWellDefined": "NP_001316872.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS516451" }, { "@id": "http://reg.genome.network/allele/PA2827278222", "coordinates": [ { "allele": "T", "end": 2127, "referenceAllele": "A", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329944.1:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316873.1:p.Asp513Val", "hgvsWellDefined": "NP_001316873.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS516452" }, { "@id": "http://reg.genome.network/allele/PA2827279062", "coordinates": [ { "allele": "T", "end": 1477, "referenceAllele": "A", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329945.1:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001316874.1:p.Asp428Val", "hgvsWellDefined": "NP_001316874.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS516453" }, { "@id": "http://reg.genome.network/allele/PA2827279920", "coordinates": [ { "allele": "T", "end": 2127, "referenceAllele": "A", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329946.1:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316875.1:p.Asp513Val", "hgvsWellDefined": "NP_001316875.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS516454" }, { "@id": "http://reg.genome.network/allele/PA2827280778", "coordinates": [ { "allele": "T", "end": 2127, "referenceAllele": "A", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329947.1:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316876.1:p.Asp513Val", "hgvsWellDefined": "NP_001316876.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS516455" }, { "@id": "http://reg.genome.network/allele/PA2828152400", "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001364700.1:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001351629.1:p.Asp428Val", "hgvsWellDefined": "NP_001351629.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS523921" }, { "@id": "http://reg.genome.network/allele/PA2828153153", "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001364701.1:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001351630.1:p.Asp428Val", "hgvsWellDefined": "NP_001351630.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS523922" }, { "@id": "http://reg.genome.network/allele/PA2829782593", "coordinates": [ { "allele": "T", "end": 2127, "referenceAllele": "A", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_014749.4:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_055564.3:p.Asp513Val", "hgvsWellDefined": "NP_055564.3:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS525616" }, { "coordinates": [ { "allele": "T", "end": 2254, "referenceAllele": "A", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449779.1:c.1661A>T" ], "proteinEffect": { "hgvs": "XP_024305547.1:p.Asp554Val", "hgvsWellDefined": "XP_024305547.1:p.Asp554Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583324" }, { "coordinates": [ { "allele": "T", "end": 2155, "referenceAllele": "A", "start": 2154 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449780.1:c.1562A>T" ], "proteinEffect": { "hgvs": "XP_024305548.1:p.Asp521Val", "hgvsWellDefined": "XP_024305548.1:p.Asp521Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583325" }, { "coordinates": [ { "allele": "T", "end": 2254, "referenceAllele": "A", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449781.1:c.1661A>T" ], "proteinEffect": { "hgvs": "XP_024305549.1:p.Asp554Val", "hgvsWellDefined": "XP_024305549.1:p.Asp554Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583326" }, { "coordinates": [ { "allele": "T", "end": 1524, "referenceAllele": "A", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449782.1:c.1307A>T" ], "proteinEffect": { "hgvs": "XP_024305550.1:p.Asp436Val", "hgvsWellDefined": "XP_024305550.1:p.Asp436Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583327" }, { "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "A", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449783.1:c.1307A>T" ], "proteinEffect": { "hgvs": "XP_024305551.1:p.Asp436Val", "hgvsWellDefined": "XP_024305551.1:p.Asp436Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583328" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "A", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449784.1:c.1307A>T" ], "proteinEffect": { "hgvs": "XP_024305552.1:p.Asp436Val", "hgvsWellDefined": "XP_024305552.1:p.Asp436Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583329" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "A", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449785.1:c.1283A>T" ], "proteinEffect": { "hgvs": "XP_024305553.1:p.Asp428Val", "hgvsWellDefined": "XP_024305553.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583330" }, { "coordinates": [ { "allele": "T", "end": 1648, "referenceAllele": "A", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449787.1:c.1142A>T" ], "proteinEffect": { "hgvs": "XP_024305555.1:p.Asp381Val", "hgvsWellDefined": "XP_024305555.1:p.Asp381Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583331" }, { "coordinates": [ { "allele": "T", "end": 1435, "referenceAllele": "A", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449788.1:c.1118A>T" ], "proteinEffect": { "hgvs": "XP_024305556.1:p.Asp373Val", "hgvsWellDefined": "XP_024305556.1:p.Asp373Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583332" }, { "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "A", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449789.1:c.1118A>T" ], "proteinEffect": { "hgvs": "XP_024305557.1:p.Asp373Val", "hgvsWellDefined": "XP_024305557.1:p.Asp373Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583333" }, { "coordinates": [ { "allele": "T", "end": 2155, "referenceAllele": "A", "start": 2154 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "XM_024449791.1:c.1562A>T" ], "proteinEffect": { "hgvs": "XP_024305559.1:p.Asp521Val", "hgvsWellDefined": "XP_024305559.1:p.Asp521Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583334" }, { "@id": "http://reg.genome.network/allele/PA204052", "coordinates": [ { "allele": "T", "end": 1926, "referenceAllele": "A", "start": 1925 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244189.2:c.1697A>T" ], "proteinEffect": { "hgvs": "NP_001231118.1:p.Asp566Val", "hgvsWellDefined": "NP_001231118.1:p.Asp566Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS680294" }, { "@id": "http://reg.genome.network/allele/PA2826354552", "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "A", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244190.2:c.1493A>T" ], "proteinEffect": { "hgvs": "NP_001231119.1:p.Asp498Val", "hgvsWellDefined": "NP_001231119.1:p.Asp498Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS680295" }, { "@id": "http://reg.genome.network/allele/PA2826357812", "coordinates": [ { "allele": "T", "end": 1700, "referenceAllele": "A", "start": 1699 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244192.2:c.1406A>T" ], "proteinEffect": { "hgvs": "NP_001231121.1:p.Asp469Val", "hgvsWellDefined": "NP_001231121.1:p.Asp469Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS680296" }, { "@id": "http://reg.genome.network/allele/PA2827277359", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329943.3:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316872.1:p.Asp513Val", "hgvsWellDefined": "NP_001316872.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS686720", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652326.2:c.1538A>T" }, "RefSeq": { "hgvs": "NM_001329943.3:c.1538A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498929.1:p.Asp513Val" }, "RefSeq": { "hgvs": "NP_001316872.1:p.Asp513Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2827278222", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329944.2:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316873.1:p.Asp513Val", "hgvsWellDefined": "NP_001316873.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS686721" }, { "@id": "http://reg.genome.network/allele/PA2827279062", "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329945.2:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001316874.1:p.Asp428Val", "hgvsWellDefined": "NP_001316874.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS686722" }, { "@id": "http://reg.genome.network/allele/PA2827279920", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329946.2:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316875.1:p.Asp513Val", "hgvsWellDefined": "NP_001316875.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS686723" }, { "@id": "http://reg.genome.network/allele/PA2827280778", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001329947.2:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_001316876.1:p.Asp513Val", "hgvsWellDefined": "NP_001316876.1:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS686724" }, { "@id": "http://reg.genome.network/allele/PA2828153153", "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001364701.2:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001351630.1:p.Asp428Val", "hgvsWellDefined": "NP_001351630.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690948" }, { "@id": "http://reg.genome.network/allele/PA2829782593", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "A", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_014749.5:c.1538A>T" ], "proteinEffect": { "hgvs": "NP_055564.3:p.Asp513Val", "hgvsWellDefined": "NP_055564.3:p.Asp513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS697335" }, { "@id": "http://reg.genome.network/allele/PA2826356156", "coordinates": [ { "allele": "T", "end": 1577, "referenceAllele": "A", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244191.2:c.1283A>T" ], "proteinEffect": { "hgvs": "NP_001231120.1:p.Asp428Val", "hgvsWellDefined": "NP_001231120.1:p.Asp428Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS714547" }, { "@id": "http://reg.genome.network/allele/PA2826359302", "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "A", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN019960", "geneNCBI_id": 9786, "geneSymbol": "KIAA0586", "hgvs": [ "NM_001244193.2:c.1118A>T" ], "proteinEffect": { "hgvs": "NP_001231122.1:p.Asp373Val", "hgvsWellDefined": "NP_001231122.1:p.Asp373Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS714548" } ], "type": "nucleotide" }