{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356908752", "communityStandardTitle": [ "NM_000222.3(KIT):c.1964A>T (p.Asn655Ile)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.55594261A>T?assembly=hg19", "id": "chr4:g.55594261A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.54728095A>T?assembly=hg38", "id": "chr4:g.54728095A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519707", "rs": 1057519707 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-54728095-A-T?dataset=gnomad_r4", "id": "4-54728095-A-T", "variant": "4:54728095 A / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 54728095, "referenceAllele": "A", "start": 54728094 } ], "hgvs": [ "NC_000004.12:g.54728095A>T", "CM000666.2:g.54728095A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 55594261, "referenceAllele": "A", "start": 55594260 } ], "hgvs": [ "NC_000004.11:g.55594261A>T", "CM000666.1:g.55594261A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 55289018, "referenceAllele": "A", "start": 55289017 } ], "hgvs": [ "NC_000004.10:g.55289018A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 75101, "referenceAllele": "A", "start": 75100 } ], "hgvs": [ "NG_007456.1:g.75101A>T", "LRG_307:g.75101A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000582" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2047, "referenceAllele": "A", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.7:c.1955A>T" ], "proteinEffect": { "hgvs": "ENSP00000390987.3:p.Asn652Ile", "hgvsWellDefined": "ENSP00000390987.3:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS824624" }, { "coordinates": [ { "allele": "T", "end": 2042, "referenceAllele": "A", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000685269.1:n.2042A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829977" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "A", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000686011.1:c.1952A>T" ], "proteinEffect": { "hgvs": "ENSP00000509704.1:p.Asn651Ile", "hgvsWellDefined": "ENSP00000509704.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS830351" }, { "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "A", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687109.1:c.1967A>T" ], "proteinEffect": { "hgvs": "ENSP00000509371.1:p.Asn656Ile", "hgvsWellDefined": "ENSP00000509371.1:p.Asn656Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS830913" }, { "coordinates": [ { "allele": "T", "end": 2379, "referenceAllele": "A", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687208.1:n.2379A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830972" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "A", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687246.1:c.1952A>T" ], "proteinEffect": { "hgvs": "ENSP00000509114.1:p.Asn651Ile", "hgvsWellDefined": "ENSP00000509114.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS830998" }, { "coordinates": [ { "allele": "T", "end": 2122, "referenceAllele": "A", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687265.1:n.2122A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831006" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "A", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687295.1:c.1952A>T" ], "proteinEffect": { "hgvs": "ENSP00000509450.1:p.Asn651Ile", "hgvsWellDefined": "ENSP00000509450.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS831020" }, { "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "A", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689832.1:c.1967A>T" ], "proteinEffect": { "hgvs": "ENSP00000509084.1:p.Asn656Ile", "hgvsWellDefined": "ENSP00000509084.1:p.Asn656Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS832391" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "A", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689994.1:c.1454A>T" ], "proteinEffect": { "hgvs": "ENSP00000509156.1:p.Asn485Ile", "hgvsWellDefined": "ENSP00000509156.1:p.Asn485Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS832482" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690543.1:c.1955A>T" ], "proteinEffect": { "hgvs": "ENSP00000508831.1:p.Asn652Ile", "hgvsWellDefined": "ENSP00000508831.1:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS832753" }, { "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "A", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690917.1:n.2182A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832943" }, { "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "A", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000691361.1:n.874A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833177" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "A", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692783.1:c.1964A>T" ], "proteinEffect": { "hgvs": "ENSP00000508733.1:p.Asn655Ile", "hgvsWellDefined": "ENSP00000508733.1:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS833884" }, { "coordinates": [ { "allele": "T", "end": 2061, "referenceAllele": "A", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692991.1:n.2061A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834006" }, { "coordinates": [ { "allele": "T", "end": 2022, "referenceAllele": "A", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.6:c.1964A>T" ], "proteinEffect": { "hgvs": "ENSP00000288135.6:p.Asn655Ile", "hgvsWellDefined": "ENSP00000288135.6:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS743936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1964A>T" }, "RefSeq": { "hgvs": "NM_000222.3:c.1964A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Asn655Ile" }, "RefSeq": { "hgvs": "NP_000213.1:p.Asn655Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 2061, "referenceAllele": "A", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.5:c.1964A>T" ], "proteinEffect": { "hgvs": "ENSP00000288135.5:p.Asn655Ile", "hgvsWellDefined": "ENSP00000288135.5:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS253496" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "A", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.6:c.1952A>T" ], "proteinEffect": { "hgvs": "ENSP00000390987.2:p.Asn651Ile", "hgvsWellDefined": "ENSP00000390987.2:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS282486" }, { "@id": "http://reg.genome.network/allele/PA3070287110", "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "A", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.2:c.1964A>T", "LRG_307t1:c.1964A>T" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Asn655Ile", "hgvsWellDefined": "NP_000213.1:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006286" }, { "coordinates": [ { "allele": "T", "end": 2039, "referenceAllele": "A", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.1:c.1952A>T" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Asn651Ile", "hgvsWellDefined": "NP_001087241.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010514" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "A", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265740.1:c.1967A>T" ], "proteinEffect": { "hgvs": "XP_005265797.1:p.Asn656Ile", "hgvsWellDefined": "XP_005265797.1:p.Asn656Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS064764" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "A", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265741.1:c.1967A>T" ], "proteinEffect": { "hgvs": "XP_005265798.1:p.Asn656Ile", "hgvsWellDefined": "XP_005265798.1:p.Asn656Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS064765" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.1:c.1955A>T" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Asn652Ile", "hgvsWellDefined": "XP_005265799.1:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS064766" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.3:c.1955A>T" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Asn652Ile", "hgvsWellDefined": "XP_005265799.1:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS536112" }, { "coordinates": [ { "allele": "T", "end": 2022, "referenceAllele": "A", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008178.1:c.1964A>T" ], "proteinEffect": { "hgvs": "XP_016863667.1:p.Asn655Ile", "hgvsWellDefined": "XP_016863667.1:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS562733" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008179.1:c.1955A>T" ], "proteinEffect": { "hgvs": "XP_016863668.1:p.Asn652Ile", "hgvsWellDefined": "XP_016863668.1:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS562734" }, { "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "A", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008180.1:c.1952A>T" ], "proteinEffect": { "hgvs": "XP_016863669.1:p.Asn651Ile", "hgvsWellDefined": "XP_016863669.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS562735" }, { "@id": "http://reg.genome.network/allele/PA3070287110", "coordinates": [ { "allele": "T", "end": 2022, "referenceAllele": "A", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.3:c.1964A>T" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Asn655Ile", "hgvsWellDefined": "NP_000213.1:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS674751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1964A>T" }, "RefSeq": { "hgvs": "NM_000222.3:c.1964A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Asn655Ile" }, "RefSeq": { "hgvs": "NP_000213.1:p.Asn655Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "A", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.2:c.1952A>T" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Asn651Ile", "hgvsWellDefined": "NP_001087241.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711888" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "A", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385284.1:c.1967A>T" ], "proteinEffect": { "hgvs": "NP_001372213.1:p.Asn656Ile", "hgvsWellDefined": "NP_001372213.1:p.Asn656Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS723620" }, { "coordinates": [ { "allele": "T", "end": 2022, "referenceAllele": "A", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385285.1:c.1964A>T" ], "proteinEffect": { "hgvs": "NP_001372214.1:p.Asn655Ile", "hgvsWellDefined": "NP_001372214.1:p.Asn655Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS723621" }, { "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "A", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385286.1:c.1952A>T" ], "proteinEffect": { "hgvs": "NP_001372215.1:p.Asn651Ile", "hgvsWellDefined": "NP_001372215.1:p.Asn651Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS723622" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385288.1:c.1955A>T" ], "proteinEffect": { "hgvs": "NP_001372217.1:p.Asn652Ile", "hgvsWellDefined": "NP_001372217.1:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS723624" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "A", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385290.1:c.1967A>T" ], "proteinEffect": { "hgvs": "NP_001372219.1:p.Asn656Ile", "hgvsWellDefined": "NP_001372219.1:p.Asn656Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS723626" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385292.1:c.1955A>T" ], "proteinEffect": { "hgvs": "NP_001372221.1:p.Asn652Ile", "hgvsWellDefined": "NP_001372221.1:p.Asn652Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS723628" } ], "type": "nucleotide" }