Canonical Allele Identifier: CA413918448

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608196T>A (hg19) ; chrX:g.101353208T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353208T>A , CM000685.2:g.101353208T>A	GRCh38
NC_000023.10:g.100608196T>A , CM000685.1:g.100608196T>A	GRCh37
NC_000023.9:g.100494852T>A	NCBI36
NG_009616.1:g.38017A>T , LRG_128:g.38017A>T
NG_011734.1:g.762A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3411A>T
ENST00000488970.2:n.4050A>T
ENST00000695614.1:c.1894A>T	ENSP00000512053.1:p.Ser632Cys
ENST00000695615.1:c.1894A>T	ENSP00000512054.1:p.Ser632Cys
ENST00000695616.1:c.*1739A>T	ENSP00000512055.1:n.*1739A>T
ENST00000695617.1:c.1891A>T	ENSP00000512056.1:p.Ser631Cys
ENST00000695618.1:c.*1643A>T	ENSP00000512058.1:n.*1643A>T
ENST00000695619.1:c.*1604A>T	ENSP00000512059.1:n.*1604A>T
ENST00000695620.1:c.*1820A>T	ENSP00000512060.1:n.*1820A>T
ENST00000695621.1:c.*319A>T	ENSP00000512061.1:n.*319A>T
ENST00000695622.1:c.1831A>T	ENSP00000512062.1:p.Ser611Cys
ENST00000695623.1:c.1888A>T	ENSP00000512063.1:p.Ser630Cys
ENST00000695624.1:n.1199A>T
ENST00000695625.1:c.1875+19A>T	ENSP00000512064.1:n.1875+19A>T
ENST00000695626.1:c.649A>T	ENSP00000512065.1:n.649A>T
ENST00000695627.1:c.842A>T	ENSP00000512066.1:n.842A>T
ENST00000695628.1:c.453A>T	ENSP00000512067.1:n.453A>T
ENST00000695629.1:c.334A>T	ENSP00000512068.1:p.Ser112Cys
ENST00000695630.1:c.621A>T
ENST00000695631.1:c.155A>T
ENST00000703407.1:c.1366A>T	ENSP00000512057.1:p.Ser456Cys
ENST00000308731.8:c.1894A>T MANE Select	ENSP00000308176.8:p.Ser632Cys
ENST00000308731.7:c.1894A>T	ENSP00000308176.7:p.Ser632Cys
ENST00000372880.5:c.1366A>T	ENSP00000361971.1:p.Ser456Cys
ENST00000470069.1:n.259A>T
ENST00000618050.4:c.1893A>T	ENSP00000479125.1:n.1893A>T
ENST00000621635.4:c.1996A>T	ENSP00000483570.1:p.Ser666Cys
NM_000061.2:c.1894A>T , LRG_128t1:c.1894A>T	NP_000052.1:p.Ser632Cys
NM_001287344.1:c.1996A>T	NP_001274273.1:p.Ser666Cys
NM_001287345.1:c.1366A>T	NP_001274274.1:p.Ser456Cys
NM_000061.3:c.1894A>T MANE Select	NP_000052.1:p.Ser632Cys
NM_001287344.2:c.1996A>T	NP_001274273.1:p.Ser666Cys
NM_001287345.2:c.1366A>T	NP_001274274.1:p.Ser456Cys