Canonical Allele Identifier: CA517529622

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608245A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353257A>T , CM000685.2:g.101353257A>T	GRCh38
NC_000023.10:g.100608245A>T , CM000685.1:g.100608245A>T	GRCh37
NC_000023.9:g.100494901A>T	NCBI36
NG_009616.1:g.37968T>A , LRG_128:g.37968T>A
NG_011734.1:g.713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3362T>A
ENST00000488970.2:n.4001T>A
ENST00000695614.1:c.1845T>A	ENSP00000512053.1:p.Arg615=
ENST00000695615.1:c.1845T>A	ENSP00000512054.1:p.Arg615=
ENST00000695616.1:c.*1690T>A	ENSP00000512055.1:n.*1690T>A
ENST00000695617.1:c.1842T>A	ENSP00000512056.1:p.Arg614=
ENST00000695618.1:c.*1594T>A	ENSP00000512058.1:n.*1594T>A
ENST00000695619.1:c.*1555T>A	ENSP00000512059.1:n.*1555T>A
ENST00000695620.1:c.*1771T>A	ENSP00000512060.1:n.*1771T>A
ENST00000695621.1:c.*270T>A	ENSP00000512061.1:n.*270T>A
ENST00000695622.1:c.1782T>A	ENSP00000512062.1:p.Arg594=
ENST00000695623.1:c.1839T>A	ENSP00000512063.1:p.Arg613=
ENST00000695624.1:n.1150T>A
ENST00000695625.1:c.1845T>A	ENSP00000512064.1:p.Arg615=
ENST00000695626.1:c.600T>A	ENSP00000512065.1:n.600T>A
ENST00000695627.1:c.793T>A	ENSP00000512066.1:n.793T>A
ENST00000695628.1:c.404T>A	ENSP00000512067.1:n.404T>A
ENST00000695629.1:c.285T>A	ENSP00000512068.1:p.Arg95=
ENST00000695630.1:c.572T>A
ENST00000695631.1:c.115-9T>A
ENST00000703407.1:c.1317T>A	ENSP00000512057.1:p.Arg439=
ENST00000308731.8:c.1845T>A MANE Select	ENSP00000308176.8:p.Arg615=
ENST00000308731.7:c.1845T>A	ENSP00000308176.7:p.Arg615=
ENST00000372880.5:c.1317T>A	ENSP00000361971.1:p.Arg439=
ENST00000470069.1:n.210T>A
ENST00000618050.4:c.1844T>A	ENSP00000479125.1:n.1844T>A
ENST00000621635.4:c.1947T>A	ENSP00000483570.1:p.Arg649=
NM_000061.2:c.1845T>A , LRG_128t1:c.1845T>A	NP_000052.1:p.Arg615=
NM_001287344.1:c.1947T>A	NP_001274273.1:p.Arg649=
NM_001287345.1:c.1317T>A	NP_001274274.1:p.Arg439=
NM_000061.3:c.1845T>A MANE Select	NP_000052.1:p.Arg615=
NM_001287344.2:c.1947T>A	NP_001274273.1:p.Arg649=
NM_001287345.2:c.1317T>A	NP_001274274.1:p.Arg439=