Canonical Allele Identifier: CA517529497

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608203G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353215G>T , CM000685.2:g.101353215G>T	GRCh38
NC_000023.10:g.100608203G>T , CM000685.1:g.100608203G>T	GRCh37
NC_000023.9:g.100494859G>T	NCBI36
NG_009616.1:g.38010C>A , LRG_128:g.38010C>A
NG_011734.1:g.755C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3404C>A
ENST00000488970.2:n.4043C>A
ENST00000695614.1:c.1887C>A	ENSP00000512053.1:p.Ile629=
ENST00000695615.1:c.1887C>A	ENSP00000512054.1:p.Ile629=
ENST00000695616.1:c.*1732C>A	ENSP00000512055.1:n.*1732C>A
ENST00000695617.1:c.1884C>A	ENSP00000512056.1:p.Ile628=
ENST00000695618.1:c.*1636C>A	ENSP00000512058.1:n.*1636C>A
ENST00000695619.1:c.*1597C>A	ENSP00000512059.1:n.*1597C>A
ENST00000695620.1:c.*1813C>A	ENSP00000512060.1:n.*1813C>A
ENST00000695621.1:c.*312C>A	ENSP00000512061.1:n.*312C>A
ENST00000695622.1:c.1824C>A	ENSP00000512062.1:p.Ile608=
ENST00000695623.1:c.1881C>A	ENSP00000512063.1:p.Ile627=
ENST00000695624.1:n.1192C>A
ENST00000695625.1:c.1875+12C>A	ENSP00000512064.1:n.1875+12C>A
ENST00000695626.1:c.642C>A	ENSP00000512065.1:n.642C>A
ENST00000695627.1:c.835C>A	ENSP00000512066.1:n.835C>A
ENST00000695628.1:c.446C>A	ENSP00000512067.1:n.446C>A
ENST00000695629.1:c.327C>A	ENSP00000512068.1:p.Ile109=
ENST00000695630.1:c.614C>A
ENST00000695631.1:c.148C>A
ENST00000703407.1:c.1359C>A	ENSP00000512057.1:p.Ile453=
ENST00000308731.8:c.1887C>A MANE Select	ENSP00000308176.8:p.Ile629=
ENST00000308731.7:c.1887C>A	ENSP00000308176.7:p.Ile629=
ENST00000372880.5:c.1359C>A	ENSP00000361971.1:p.Ile453=
ENST00000470069.1:n.252C>A
ENST00000618050.4:c.1886C>A	ENSP00000479125.1:n.1886C>A
ENST00000621635.4:c.1989C>A	ENSP00000483570.1:p.Ile663=
NM_000061.2:c.1887C>A , LRG_128t1:c.1887C>A	NP_000052.1:p.Ile629=
NM_001287344.1:c.1989C>A	NP_001274273.1:p.Ile663=
NM_001287345.1:c.1359C>A	NP_001274274.1:p.Ile453=
NM_000061.3:c.1887C>A MANE Select	NP_000052.1:p.Ile629=
NM_001287344.2:c.1989C>A	NP_001274273.1:p.Ile663=
NM_001287345.2:c.1359C>A	NP_001274274.1:p.Ile453=