Canonical Allele Identifier: CA413919329

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608298A>G (hg19) ; chrX:g.101353310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353310A>G , CM000685.2:g.101353310A>G	GRCh38
NC_000023.10:g.100608298A>G , CM000685.1:g.100608298A>G	GRCh37
NC_000023.9:g.100494954A>G	NCBI36
NG_009616.1:g.37915T>C , LRG_128:g.37915T>C
NG_011734.1:g.660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3309T>C
ENST00000488970.2:n.3948T>C
ENST00000695614.1:c.1792T>C	ENSP00000512053.1:p.Tyr598His
ENST00000695615.1:c.1792T>C	ENSP00000512054.1:p.Tyr598His
ENST00000695616.1:c.*1637T>C	ENSP00000512055.1:n.*1637T>C
ENST00000695617.1:c.1789T>C	ENSP00000512056.1:p.Tyr597His
ENST00000695618.1:c.*1541T>C	ENSP00000512058.1:n.*1541T>C
ENST00000695619.1:c.*1502T>C	ENSP00000512059.1:n.*1502T>C
ENST00000695620.1:c.*1718T>C	ENSP00000512060.1:n.*1718T>C
ENST00000695621.1:c.*217T>C	ENSP00000512061.1:n.*217T>C
ENST00000695622.1:c.1729T>C	ENSP00000512062.1:p.Tyr577His
ENST00000695623.1:c.1786T>C	ENSP00000512063.1:p.Tyr596His
ENST00000695624.1:n.1097T>C
ENST00000695625.1:c.1792T>C	ENSP00000512064.1:p.Tyr598His
ENST00000695626.1:c.547T>C	ENSP00000512065.1:n.547T>C
ENST00000695627.1:c.740T>C	ENSP00000512066.1:n.740T>C
ENST00000695628.1:c.351T>C	ENSP00000512067.1:n.351T>C
ENST00000695629.1:c.232T>C	ENSP00000512068.1:p.Tyr78His
ENST00000695630.1:c.519T>C
ENST00000695631.1:c.115-62T>C
ENST00000703407.1:c.1264T>C	ENSP00000512057.1:p.Tyr422His
ENST00000308731.8:c.1792T>C MANE Select	ENSP00000308176.8:p.Tyr598His
ENST00000308731.7:c.1792T>C	ENSP00000308176.7:p.Tyr598His
ENST00000372880.5:c.1264T>C	ENSP00000361971.1:p.Tyr422His
ENST00000470069.1:n.157T>C
ENST00000618050.4:c.1791T>C	ENSP00000479125.1:n.1791T>C
ENST00000621635.4:c.1894T>C	ENSP00000483570.1:p.Tyr632His
NM_000061.2:c.1792T>C , LRG_128t1:c.1792T>C	NP_000052.1:p.Tyr598His
NM_001287344.1:c.1894T>C	NP_001274273.1:p.Tyr632His
NM_001287345.1:c.1264T>C	NP_001274274.1:p.Tyr422His
NM_000061.3:c.1792T>C MANE Select	NP_000052.1:p.Tyr598His
NM_001287344.2:c.1894T>C	NP_001274273.1:p.Tyr632His
NM_001287345.2:c.1264T>C	NP_001274274.1:p.Tyr422His