{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374378008", "communityStandardTitle": [ "NM_001079802.2(FKTN):c.1175A>T (p.Tyr392Phe)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108397334A>T?assembly=hg19", "id": "chr9:g.108397334A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.105635053A>T?assembly=hg38", "id": "chr9:g.105635053A>T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 105635053, "referenceAllele": "A", "start": 105635052 } ], "hgvs": [ "NC_000009.12:g.105635053A>T", "CM000671.2:g.105635053A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 108397334, "referenceAllele": "A", "start": 108397333 } ], "hgvs": [ "NC_000009.11:g.108397334A>T", "CM000671.1:g.108397334A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 107437155, "referenceAllele": "A", "start": 107437154 } ], "hgvs": [ "NC_000009.10:g.107437155A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 81924, "referenceAllele": "A", "start": 81923 } ], "hgvs": [ "NG_008754.1:g.81924A>T", "LRG_434:g.81924A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001201" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1390, "referenceAllele": "A", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000357998.10:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000350687.6:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000350687.6:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS749015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.1175A>T" }, "RefSeq": { "hgvs": "NM_001079802.2:c.1175A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Tyr392Phe" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Tyr392Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 1729, "referenceAllele": "A", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.6:c.*783A>T" ], "proteinEffect": { "hgvs": "ENSP00000473540.2:n.*783A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS761578" }, { "coordinates": [ { "allele": "T", "end": 1609, "referenceAllele": "A", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642177.1:c.*390A>T" ], "proteinEffect": { "hgvs": "ENSP00000495864.1:n.*390A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766599" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "A", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642537.1:c.*1443A>T" ], "proteinEffect": { "hgvs": "ENSP00000495945.1:n.*1443A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766800" }, { "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "A", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642952.1:c.1515A>T" ], "proteinEffect": { "hgvs": "ENSP00000493886.1:n.1515A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767008" }, { "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000644273.1:c.458A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767736" }, { "coordinates": [ { "allele": "T", "end": 1687, "referenceAllele": "A", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000645933.1:c.*1488A>T" ], "proteinEffect": { "hgvs": "ENSP00000495852.1:n.*1488A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768613" }, { "coordinates": [ { "allele": "T", "end": 1555, "referenceAllele": "A", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000674563.1:c.*156A>T" ], "proteinEffect": { "hgvs": "ENSP00000502153.1:n.*156A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774513" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "A", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000674633.1:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000502164.1:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000502164.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS774572" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "A", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675695.1:c.*156A>T" ], "proteinEffect": { "hgvs": "ENSP00000502460.1:n.*156A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775481" }, { "coordinates": [ { "allele": "T", "end": 2946, "referenceAllele": "A", "start": 2945 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675736.1:c.*955A>T" ], "proteinEffect": { "hgvs": "ENSP00000502809.1:n.*955A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775515" }, { "coordinates": [ { "allele": "T", "end": 2539, "referenceAllele": "A", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676011.1:n.2539A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775753" }, { "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "A", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676310.1:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000501585.1:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000501585.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS776009" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "A", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000223528.6:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000223528.2:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000223528.2:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS248453" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "A", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000357998.9:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000350687.5:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000350687.5:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS264296" }, { "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "A", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000448551.6:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000399140.2:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000399140.2:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS299790" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "A", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000457847.1:c.265A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304141" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "A", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602526.1:c.*1213A>T" ], "proteinEffect": { "hgvs": "ENSP00000473347.1:n.*1213A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS398226" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "A", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.5:c.1175A>T" ], "proteinEffect": { "hgvs": "ENSP00000473540.1:p.Tyr392Phe", "hgvsWellDefined": "ENSP00000473540.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS398289" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "A", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.1:c.1175A>T", "LRG_434t1:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Tyr392Phe", "hgvsWellDefined": "NP_001073270.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS010087" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "A", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.1:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Tyr392Phe", "hgvsWellDefined": "NP_001185892.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS016930" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "A", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_006731.2:c.1175A>T", "LRG_434t2:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_006722.2:p.Tyr392Phe", "hgvsWellDefined": "NP_006722.2:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS031718" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_006717014.2:c.783A>T" ], "proteinEffect": { "hgvs": "XP_006717077.1:p.Ile261=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071949" }, { "coordinates": [ { "allele": "T", "end": 1740, "referenceAllele": "A", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.1:c.1378A>T" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Thr460Ser", "hgvsWellDefined": "XP_011516680.1:p.Thr460Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085552" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "A", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518380.1:c.*114A>T" ], "proteinEffect": { "hgvs": "XP_011516682.1:n.*114A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085554" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "A", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518386.1:c.1206A>T" ], "proteinEffect": { "hgvs": "XP_011516688.1:p.Ile402=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085560" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "A", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.1:c.783A>T" ], "proteinEffect": { "hgvs": "XP_011516693.1:p.Ile261=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085565" }, { "coordinates": [ { "allele": "T", "end": 1526, "referenceAllele": "A", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.1:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Tyr392Phe", "hgvsWellDefined": "NP_001338425.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS520259" }, { "coordinates": [ { "allele": "T", "end": 1624, "referenceAllele": "A", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.1:c.1106A>T" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Tyr369Phe", "hgvsWellDefined": "NP_001338426.1:p.Tyr369Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS520260" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "A", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.1:c.1206A>T" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Ile402=" }, "referenceSequence": "http://reg.genome.network/refseq/RS520261" }, { "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "A", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.1:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338428.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS520262" }, { "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "A", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.1:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338429.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS520263" }, { "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.1:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338430.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS520264" }, { "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "A", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.1:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338431.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS520265" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "A", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.1:n.1299A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530753" }, { "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "A", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.1:n.1471A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530754" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "A", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.2:c.1378A>T" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Thr460Ser", "hgvsWellDefined": "XP_011516680.1:p.Thr460Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544892" }, { "coordinates": [ { "allele": "T", "end": 1147, "referenceAllele": "A", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.2:c.783A>T" ], "proteinEffect": { "hgvs": "XP_011516693.1:p.Ile261=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544897" }, { "coordinates": [ { "allele": "T", "end": 1539, "referenceAllele": "A", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014464.1:c.1175A>T" ], "proteinEffect": { "hgvs": "XP_016869953.1:p.Tyr392Phe", "hgvsWellDefined": "XP_016869953.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567429" }, { "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "A", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014465.1:c.1175A>T" ], "proteinEffect": { "hgvs": "XP_016869954.1:p.Tyr392Phe", "hgvsWellDefined": "XP_016869954.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567430" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "A", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014467.1:c.1175A>T" ], "proteinEffect": { "hgvs": "XP_016869956.1:p.Tyr392Phe", "hgvsWellDefined": "XP_016869956.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567431" }, { "coordinates": [ { "allele": "T", "end": 1681, "referenceAllele": "A", "start": 1680 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014468.1:c.1175A>T" ], "proteinEffect": { "hgvs": "XP_016869957.1:p.Tyr392Phe", "hgvsWellDefined": "XP_016869957.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567432" }, { "coordinates": [ { "allele": "T", "end": 1539, "referenceAllele": "A", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014469.1:c.1175A>T" ], "proteinEffect": { "hgvs": "XP_016869958.1:p.Tyr392Phe", "hgvsWellDefined": "XP_016869958.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567433" }, { "coordinates": [ { "allele": "T", "end": 1539, "referenceAllele": "A", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014470.1:c.1175A>T" ], "proteinEffect": { "hgvs": "XP_016869959.1:p.Tyr392Phe", "hgvsWellDefined": "XP_016869959.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567434" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "A", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746242.2:n.1742A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594595" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746243.2:n.1861A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594596" }, { "coordinates": [ { "allele": "T", "end": 1570, "referenceAllele": "A", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746244.2:n.1570A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594597" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "A", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746245.1:n.1561A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594598" }, { "coordinates": [ { "allele": "T", "end": 2654, "referenceAllele": "A", "start": 2653 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746248.1:n.2654A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594599" }, { "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_002956770.1:n.1417A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602908" }, { "coordinates": [ { "allele": "T", "end": 1390, "referenceAllele": "A", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.2:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Tyr392Phe", "hgvsWellDefined": "NP_001073270.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS676218", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.1175A>T" }, "RefSeq": { "hgvs": "NM_001079802.2:c.1175A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Tyr392Phe" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Tyr392Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 1390, "referenceAllele": "A", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.2:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Tyr392Phe", "hgvsWellDefined": "NP_001185892.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS679465" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "A", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.2:c.1175A>T" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Tyr392Phe", "hgvsWellDefined": "NP_001338425.1:p.Tyr392Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688848" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "A", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.2:c.1106A>T" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Tyr369Phe", "hgvsWellDefined": "NP_001338426.1:p.Tyr369Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688849" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "A", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.2:c.1206A>T" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Ile402=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688850" }, { "coordinates": [ { "allele": "T", "end": 1643, "referenceAllele": "A", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.2:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338428.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688851" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "A", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338429.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688852" }, { "coordinates": [ { "allele": "T", "end": 1416, "referenceAllele": "A", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.2:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338430.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688853" }, { "coordinates": [ { "allele": "T", "end": 1736, "referenceAllele": "A", "start": 1735 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.2:c.779A>T" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Tyr260Phe", "hgvsWellDefined": "NP_001338431.1:p.Tyr260Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688854" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "A", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.1298A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "A", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.1470A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }