Canonical Allele Identifier: CA413918332

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608186T>A (hg19) ; chrX:g.101353198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353198T>A , CM000685.2:g.101353198T>A	GRCh38
NC_000023.10:g.100608186T>A , CM000685.1:g.100608186T>A	GRCh37
NC_000023.9:g.100494842T>A	NCBI36
NG_009616.1:g.38027A>T , LRG_128:g.38027A>T
NG_011734.1:g.772A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3421A>T
ENST00000488970.2:n.4060A>T
ENST00000695614.1:c.1904A>T	ENSP00000512053.1:p.His635Leu
ENST00000695615.1:c.1904A>T	ENSP00000512054.1:p.His635Leu
ENST00000695616.1:c.*1749A>T	ENSP00000512055.1:n.*1749A>T
ENST00000695617.1:c.1901A>T	ENSP00000512056.1:p.His634Leu
ENST00000695618.1:c.*1653A>T	ENSP00000512058.1:n.*1653A>T
ENST00000695619.1:c.*1614A>T	ENSP00000512059.1:n.*1614A>T
ENST00000695620.1:c.*1830A>T	ENSP00000512060.1:n.*1830A>T
ENST00000695621.1:c.*329A>T	ENSP00000512061.1:n.*329A>T
ENST00000695622.1:c.1841A>T	ENSP00000512062.1:p.His614Leu
ENST00000695623.1:c.1898A>T	ENSP00000512063.1:p.His633Leu
ENST00000695624.1:n.1209A>T
ENST00000695625.1:c.1875+29A>T	ENSP00000512064.1:n.1875+29A>T
ENST00000695626.1:c.659A>T	ENSP00000512065.1:n.659A>T
ENST00000695627.1:c.852A>T	ENSP00000512066.1:n.852A>T
ENST00000695628.1:c.463A>T	ENSP00000512067.1:n.463A>T
ENST00000695629.1:c.344A>T	ENSP00000512068.1:p.His115Leu
ENST00000695630.1:c.631A>T
ENST00000695631.1:c.165A>T
ENST00000703407.1:c.1376A>T	ENSP00000512057.1:p.His459Leu
ENST00000308731.8:c.1904A>T MANE Select	ENSP00000308176.8:p.His635Leu
ENST00000308731.7:c.1904A>T	ENSP00000308176.7:p.His635Leu
ENST00000372880.5:c.1376A>T	ENSP00000361971.1:p.His459Leu
ENST00000470069.1:n.269A>T
ENST00000618050.4:c.1903A>T	ENSP00000479125.1:n.1903A>T
ENST00000621635.4:c.2006A>T	ENSP00000483570.1:p.His669Leu
NM_000061.2:c.1904A>T , LRG_128t1:c.1904A>T	NP_000052.1:p.His635Leu
NM_001287344.1:c.2006A>T	NP_001274273.1:p.His669Leu
NM_001287345.1:c.1376A>T	NP_001274274.1:p.His459Leu
NM_000061.3:c.1904A>T MANE Select	NP_000052.1:p.His635Leu
NM_001287344.2:c.2006A>T	NP_001274273.1:p.His669Leu
NM_001287345.2:c.1376A>T	NP_001274274.1:p.His459Leu