Canonical Allele Identifier: CA260199

Gene: BTK

Linked Data

• ClinVar Variation Id: 35766
• ClinVar RCV Id: RCV000029418 ; RCV002513238
• dbSNP Id: rs193922133
• MyVariant Identifiers: chrX:g.100613402T>C (hg19) ; chrX:g.101358414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358414T>C , CM000685.2:g.101358414T>C	GRCh38
NC_000023.10:g.100613402T>C , CM000685.1:g.100613402T>C	GRCh37
NC_000023.9:g.100500058T>C	NCBI36
NG_009616.1:g.32811A>G , LRG_128:g.32811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.778A>G
ENST00000478995.2:n.1158A>G
ENST00000488970.2:n.1156A>G
ENST00000695614.1:c.998A>G	ENSP00000512053.1:p.His333Arg
ENST00000695615.1:c.998A>G	ENSP00000512054.1:p.His333Arg
ENST00000695616.1:c.*843A>G	ENSP00000512055.1:n.*843A>G
ENST00000695617.1:c.995A>G	ENSP00000512056.1:p.His332Arg
ENST00000695618.1:c.*747A>G	ENSP00000512058.1:n.*747A>G
ENST00000695619.1:c.*708A>G	ENSP00000512059.1:n.*708A>G
ENST00000695620.1:c.*843A>G	ENSP00000512060.1:n.*843A>G
ENST00000695621.1:c.998A>G	ENSP00000512061.1:p.His333Arg
ENST00000695622.1:c.935A>G	ENSP00000512062.1:p.His312Arg
ENST00000695623.1:c.992A>G	ENSP00000512063.1:p.His331Arg
ENST00000695624.1:n.303A>G
ENST00000695625.1:c.998A>G	ENSP00000512064.1:p.His333Arg
ENST00000695626.1:c.11A>G	ENSP00000512065.1:p.His4Arg
ENST00000695627.1:c.11A>G	ENSP00000512066.1:p.His4Arg
ENST00000695628.1:c.11A>G	ENSP00000512067.1:p.His4Arg
ENST00000695629.1:c.11A>G	ENSP00000512068.1:p.His4Arg
ENST00000695630.1:c.7A>G
ENST00000695631.1:c.10A>G
ENST00000695632.1:n.15A>G
ENST00000703407.1:c.998A>G	ENSP00000512057.1:p.His333Arg
ENST00000308731.8:c.998A>G MANE Select	ENSP00000308176.8:p.His333Arg
ENST00000308731.7:c.998A>G	ENSP00000308176.7:p.His333Arg
ENST00000372880.5:c.998A>G	ENSP00000361971.1:p.His333Arg
ENST00000618050.4:c.998A>G	ENSP00000479125.1:p.His333Arg
ENST00000621635.4:c.1100A>G	ENSP00000483570.1:p.His367Arg
NM_000061.2:c.998A>G , LRG_128t1:c.998A>G	NP_000052.1:p.His333Arg
NM_001287344.1:c.1100A>G	NP_001274273.1:p.His367Arg
NM_001287345.1:c.998A>G	NP_001274274.1:p.His333Arg
NM_000061.3:c.998A>G MANE Select	NP_000052.1:p.His333Arg
NM_001287344.2:c.1100A>G	NP_001274273.1:p.His367Arg
NM_001287345.2:c.998A>G	NP_001274274.1:p.His333Arg