{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356898064", "communityStandardTitle": [ "NM_000222.3(KIT):c.590C>T (p.Ser197Leu)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1319328", "active": true, "id": "COSM1319328" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686891[alleleid]", "alleleId": 1686891, "preferredName": "NM_000222.3(KIT):c.590C>T (p.Ser197Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694457", "RCV": [ "RCV002262178" ], "variationId": 1694457 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.55564702C>T?assembly=hg19", "id": "chr4:g.55564702C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.54698536C>T?assembly=hg38", "id": "chr4:g.54698536C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2109674601", "rs": 2109674601 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 54698536, "referenceAllele": "C", "start": 54698535 } ], "hgvs": [ "NC_000004.12:g.54698536C>T", "CM000666.2:g.54698536C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 55564702, "referenceAllele": "C", "start": 55564701 } ], "hgvs": [ "NC_000004.11:g.55564702C>T", "CM000666.1:g.55564702C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 55259459, "referenceAllele": "C", "start": 55259458 } ], "hgvs": [ "NC_000004.10:g.55259459C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 45542, "referenceAllele": "C", "start": 45541 } ], "hgvs": [ "NG_007456.1:g.45542C>T", "LRG_307:g.45542C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000582" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.7:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000390987.3:p.Ser197Leu", "hgvsWellDefined": "ENSP00000390987.3:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824624" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000685269.1:n.668C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829977" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000686011.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000509704.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000509704.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830351" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687109.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000509371.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000509371.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830913" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687208.1:n.1005C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830972" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687246.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000509114.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000509114.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830998" }, { "coordinates": [ { "allele": "T", "end": 760, "referenceAllele": "C", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687265.1:n.760C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831006" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687295.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000509450.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000509450.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS831020" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689832.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000509084.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000509084.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832391" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689994.1:c.80C>T" ], "proteinEffect": { "hgvs": "ENSP00000509156.1:p.Ser27Leu", "hgvsWellDefined": "ENSP00000509156.1:p.Ser27Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832482" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690519.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000508845.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000508845.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832740" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690543.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000508831.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000508831.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832753" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690917.1:n.808C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832943" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692783.1:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000508733.1:p.Ser197Leu", "hgvsWellDefined": "ENSP00000508733.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS833884" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692991.1:n.699C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834006" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.6:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000288135.6:p.Ser197Leu", "hgvsWellDefined": "ENSP00000288135.6:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS743936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.590C>T" }, "RefSeq": { "hgvs": "NM_000222.3:c.590C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Ser197Leu" }, "RefSeq": { "hgvs": "NP_000213.1:p.Ser197Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.5:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000288135.5:p.Ser197Leu", "hgvsWellDefined": "ENSP00000288135.5:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS253496" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.6:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000390987.2:p.Ser197Leu", "hgvsWellDefined": "ENSP00000390987.2:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS282486" }, { "@id": "http://reg.genome.network/allele/PA2825091356", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.2:c.590C>T", "LRG_307t1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Ser197Leu", "hgvsWellDefined": "NP_000213.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006286" }, { "@id": "http://reg.genome.network/allele/PA2825522597", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Ser197Leu", "hgvsWellDefined": "NP_001087241.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010514" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265740.1:c.590C>T" ], "proteinEffect": { "hgvs": "XP_005265797.1:p.Ser197Leu", "hgvsWellDefined": "XP_005265797.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064764" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265741.1:c.590C>T" ], "proteinEffect": { "hgvs": "XP_005265798.1:p.Ser197Leu", "hgvsWellDefined": "XP_005265798.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064765" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.1:c.590C>T" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Ser197Leu", "hgvsWellDefined": "XP_005265799.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064766" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.3:c.590C>T" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Ser197Leu", "hgvsWellDefined": "XP_005265799.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536112" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008178.1:c.590C>T" ], "proteinEffect": { "hgvs": "XP_016863667.1:p.Ser197Leu", "hgvsWellDefined": "XP_016863667.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS562733" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008179.1:c.590C>T" ], "proteinEffect": { "hgvs": "XP_016863668.1:p.Ser197Leu", "hgvsWellDefined": "XP_016863668.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS562734" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008180.1:c.590C>T" ], "proteinEffect": { "hgvs": "XP_016863669.1:p.Ser197Leu", "hgvsWellDefined": "XP_016863669.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS562735" }, { "@id": "http://reg.genome.network/allele/PA2825091356", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.3:c.590C>T" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Ser197Leu", "hgvsWellDefined": "NP_000213.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.590C>T" }, "RefSeq": { "hgvs": "NM_000222.3:c.590C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Ser197Leu" }, "RefSeq": { "hgvs": "NP_000213.1:p.Ser197Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825522597", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.2:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Ser197Leu", "hgvsWellDefined": "NP_001087241.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711888" }, { "@id": "http://reg.genome.network/allele/PA2828962470", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385284.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001372213.1:p.Ser197Leu", "hgvsWellDefined": "NP_001372213.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS723620" }, { "@id": "http://reg.genome.network/allele/PA2828964784", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385285.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001372214.1:p.Ser197Leu", "hgvsWellDefined": "NP_001372214.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS723621" }, { "@id": "http://reg.genome.network/allele/PA2828969119", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385286.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001372215.1:p.Ser197Leu", "hgvsWellDefined": "NP_001372215.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS723622" }, { "@id": "http://reg.genome.network/allele/PA2829019063", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385288.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001372217.1:p.Ser197Leu", "hgvsWellDefined": "NP_001372217.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS723624" }, { "@id": "http://reg.genome.network/allele/PA2829021022", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385290.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001372219.1:p.Ser197Leu", "hgvsWellDefined": "NP_001372219.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS723626" }, { "@id": "http://reg.genome.network/allele/PA2580242879", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385292.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001372221.1:p.Ser197Leu", "hgvsWellDefined": "NP_001372221.1:p.Ser197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS723628" } ], "type": "nucleotide" }