{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602389", "communityStandardTitle": [ "NM_000222.3(KIT):c.1650A>T (p.Lys550Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362785[alleleid]", "alleleId": 362785, "preferredName": "NM_000222.3(KIT):c.1650A>T (p.Lys550Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375906", "RCV": [ "RCV000423846" ], "variationId": 375906 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.55593584A>T?assembly=hg19", "id": "chr4:g.55593584A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.54727418A>T?assembly=hg38", "id": "chr4:g.54727418A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519703", "rs": 1057519703 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 54727418, "referenceAllele": "A", "start": 54727417 } ], "hgvs": [ "NC_000004.12:g.54727418A>T", "CM000666.2:g.54727418A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 55593584, "referenceAllele": "A", "start": 55593583 } ], "hgvs": [ "NC_000004.11:g.55593584A>T", "CM000666.1:g.55593584A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 55288341, "referenceAllele": "A", "start": 55288340 } ], "hgvs": [ "NC_000004.10:g.55288341A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 74424, "referenceAllele": "A", "start": 74423 } ], "hgvs": [ "NG_007456.1:g.74424A>T", "LRG_307:g.74424A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000582" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "A", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.7:c.1641A>T" ], "proteinEffect": { "hgvs": "ENSP00000390987.3:p.Lys547Asn", "hgvsWellDefined": "ENSP00000390987.3:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS824624" }, { "coordinates": [ { "allele": "T", "end": 1728, "referenceAllele": "A", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000685269.1:n.1728A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829977" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000686011.1:c.1638A>T" ], "proteinEffect": { "hgvs": "ENSP00000509704.1:p.Lys546Asn", "hgvsWellDefined": "ENSP00000509704.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830351" }, { "coordinates": [ { "allele": "T", "end": 1755, "referenceAllele": "A", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687109.1:c.1653A>T" ], "proteinEffect": { "hgvs": "ENSP00000509371.1:p.Lys551Asn", "hgvsWellDefined": "ENSP00000509371.1:p.Lys551Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830913" }, { "coordinates": [ { "allele": "T", "end": 2065, "referenceAllele": "A", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687208.1:n.2065A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830972" }, { "coordinates": [ { "allele": "T", "end": 1706, "referenceAllele": "A", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687246.1:c.1638A>T" ], "proteinEffect": { "hgvs": "ENSP00000509114.1:p.Lys546Asn", "hgvsWellDefined": "ENSP00000509114.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830998" }, { "coordinates": [ { "allele": "T", "end": 1808, "referenceAllele": "A", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687265.1:n.1808A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831006" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "A", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687295.1:c.1638A>T" ], "proteinEffect": { "hgvs": "ENSP00000509450.1:p.Lys546Asn", "hgvsWellDefined": "ENSP00000509450.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS831020" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "A", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689832.1:c.1653A>T" ], "proteinEffect": { "hgvs": "ENSP00000509084.1:p.Lys551Asn", "hgvsWellDefined": "ENSP00000509084.1:p.Lys551Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832391" }, { "coordinates": [ { "allele": "T", "end": 1672, "referenceAllele": "A", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689994.1:c.1140A>T" ], "proteinEffect": { "hgvs": "ENSP00000509156.1:p.Lys380Asn", "hgvsWellDefined": "ENSP00000509156.1:p.Lys380Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832482" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "A", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690543.1:c.1641A>T" ], "proteinEffect": { "hgvs": "ENSP00000508831.1:p.Lys547Asn", "hgvsWellDefined": "ENSP00000508831.1:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832753" }, { "coordinates": [ { "allele": "T", "end": 1868, "referenceAllele": "A", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690917.1:n.1868A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832943" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "A", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000691361.1:n.560A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833177" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "A", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692783.1:c.1650A>T" ], "proteinEffect": { "hgvs": "ENSP00000508733.1:p.Lys550Asn", "hgvsWellDefined": "ENSP00000508733.1:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS833884" }, { "coordinates": [ { "allele": "T", "end": 1747, "referenceAllele": "A", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692991.1:n.1747A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834006" }, { "coordinates": [ { "allele": "T", "end": 1708, "referenceAllele": "A", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.6:c.1650A>T" ], "proteinEffect": { "hgvs": "ENSP00000288135.6:p.Lys550Asn", "hgvsWellDefined": "ENSP00000288135.6:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS743936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1650A>T" }, "RefSeq": { "hgvs": "NM_000222.3:c.1650A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Lys550Asn" }, "RefSeq": { "hgvs": "NP_000213.1:p.Lys550Asn" } } } }, { "coordinates": [ { "allele": "T", "end": 1747, "referenceAllele": "A", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.5:c.1650A>T" ], "proteinEffect": { "hgvs": "ENSP00000288135.5:p.Lys550Asn", "hgvsWellDefined": "ENSP00000288135.5:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS253496" }, { "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "A", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.6:c.1638A>T" ], "proteinEffect": { "hgvs": "ENSP00000390987.2:p.Lys546Asn", "hgvsWellDefined": "ENSP00000390987.2:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS282486" }, { "@id": "http://reg.genome.network/allele/PA645488205", "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "A", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.2:c.1650A>T", "LRG_307t1:c.1650A>T" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Lys550Asn", "hgvsWellDefined": "NP_000213.1:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006286" }, { "@id": "http://reg.genome.network/allele/PA2825523077", "coordinates": [ { "allele": "T", "end": 1725, "referenceAllele": "A", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.1:c.1638A>T" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Lys546Asn", "hgvsWellDefined": "NP_001087241.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010514" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265740.1:c.1653A>T" ], "proteinEffect": { "hgvs": "XP_005265797.1:p.Lys551Asn", "hgvsWellDefined": "XP_005265797.1:p.Lys551Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064764" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265741.1:c.1653A>T" ], "proteinEffect": { "hgvs": "XP_005265798.1:p.Lys551Asn", "hgvsWellDefined": "XP_005265798.1:p.Lys551Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064765" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "A", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.1:c.1641A>T" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Lys547Asn", "hgvsWellDefined": "XP_005265799.1:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064766" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "A", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.3:c.1641A>T" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Lys547Asn", "hgvsWellDefined": "XP_005265799.1:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS536112" }, { "coordinates": [ { "allele": "T", "end": 1708, "referenceAllele": "A", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008178.1:c.1650A>T" ], "proteinEffect": { "hgvs": "XP_016863667.1:p.Lys550Asn", "hgvsWellDefined": "XP_016863667.1:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS562733" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "A", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008179.1:c.1641A>T" ], "proteinEffect": { "hgvs": "XP_016863668.1:p.Lys547Asn", "hgvsWellDefined": "XP_016863668.1:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS562734" }, { "coordinates": [ { "allele": "T", "end": 1696, "referenceAllele": "A", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008180.1:c.1638A>T" ], "proteinEffect": { "hgvs": "XP_016863669.1:p.Lys546Asn", "hgvsWellDefined": "XP_016863669.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS562735" }, { "@id": "http://reg.genome.network/allele/PA645488205", "coordinates": [ { "allele": "T", "end": 1708, "referenceAllele": "A", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.3:c.1650A>T" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Lys550Asn", "hgvsWellDefined": "NP_000213.1:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1650A>T" }, "RefSeq": { "hgvs": "NM_000222.3:c.1650A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Lys550Asn" }, "RefSeq": { "hgvs": "NP_000213.1:p.Lys550Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825523077", "coordinates": [ { "allele": "T", "end": 1696, "referenceAllele": "A", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.2:c.1638A>T" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Lys546Asn", "hgvsWellDefined": "NP_001087241.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711888" }, { "@id": "http://reg.genome.network/allele/PA2828963178", "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385284.1:c.1653A>T" ], "proteinEffect": { "hgvs": "NP_001372213.1:p.Lys551Asn", "hgvsWellDefined": "NP_001372213.1:p.Lys551Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS723620" }, { "@id": "http://reg.genome.network/allele/PA2828966042", "coordinates": [ { "allele": "T", "end": 1708, "referenceAllele": "A", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385285.1:c.1650A>T" ], "proteinEffect": { "hgvs": "NP_001372214.1:p.Lys550Asn", "hgvsWellDefined": "NP_001372214.1:p.Lys550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS723621" }, { "@id": "http://reg.genome.network/allele/PA2828970190", "coordinates": [ { "allele": "T", "end": 1696, "referenceAllele": "A", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385286.1:c.1638A>T" ], "proteinEffect": { "hgvs": "NP_001372215.1:p.Lys546Asn", "hgvsWellDefined": "NP_001372215.1:p.Lys546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS723622" }, { "@id": "http://reg.genome.network/allele/PA2829019710", "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "A", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385288.1:c.1641A>T" ], "proteinEffect": { "hgvs": "NP_001372217.1:p.Lys547Asn", "hgvsWellDefined": "NP_001372217.1:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS723624" }, { "@id": "http://reg.genome.network/allele/PA2573077944", "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385290.1:c.1653A>T" ], "proteinEffect": { "hgvs": "NP_001372219.1:p.Lys551Asn", "hgvsWellDefined": "NP_001372219.1:p.Lys551Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS723626" }, { "@id": "http://reg.genome.network/allele/PA2829022669", "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "A", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385292.1:c.1641A>T" ], "proteinEffect": { "hgvs": "NP_001372221.1:p.Lys547Asn", "hgvsWellDefined": "NP_001372221.1:p.Lys547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS723628" } ], "type": "nucleotide" }