Canonical Allele Identifier: CA413918460

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608198T>C (hg19) ; chrX:g.101353210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353210T>C , CM000685.2:g.101353210T>C	GRCh38
NC_000023.10:g.100608198T>C , CM000685.1:g.100608198T>C	GRCh37
NC_000023.9:g.100494854T>C	NCBI36
NG_009616.1:g.38015A>G , LRG_128:g.38015A>G
NG_011734.1:g.760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3409A>G
ENST00000488970.2:n.4048A>G
ENST00000695614.1:c.1892A>G	ENSP00000512053.1:p.Tyr631Cys
ENST00000695615.1:c.1892A>G	ENSP00000512054.1:p.Tyr631Cys
ENST00000695616.1:c.*1737A>G	ENSP00000512055.1:n.*1737A>G
ENST00000695617.1:c.1889A>G	ENSP00000512056.1:p.Tyr630Cys
ENST00000695618.1:c.*1641A>G	ENSP00000512058.1:n.*1641A>G
ENST00000695619.1:c.*1602A>G	ENSP00000512059.1:n.*1602A>G
ENST00000695620.1:c.*1818A>G	ENSP00000512060.1:n.*1818A>G
ENST00000695621.1:c.*317A>G	ENSP00000512061.1:n.*317A>G
ENST00000695622.1:c.1829A>G	ENSP00000512062.1:p.Tyr610Cys
ENST00000695623.1:c.1886A>G	ENSP00000512063.1:p.Tyr629Cys
ENST00000695624.1:n.1197A>G
ENST00000695625.1:c.1875+17A>G	ENSP00000512064.1:n.1875+17A>G
ENST00000695626.1:c.647A>G	ENSP00000512065.1:n.647A>G
ENST00000695627.1:c.840A>G	ENSP00000512066.1:n.840A>G
ENST00000695628.1:c.451A>G	ENSP00000512067.1:n.451A>G
ENST00000695629.1:c.332A>G	ENSP00000512068.1:p.Tyr111Cys
ENST00000695630.1:c.619A>G
ENST00000695631.1:c.153A>G
ENST00000703407.1:c.1364A>G	ENSP00000512057.1:p.Tyr455Cys
ENST00000308731.8:c.1892A>G MANE Select	ENSP00000308176.8:p.Tyr631Cys
ENST00000308731.7:c.1892A>G	ENSP00000308176.7:p.Tyr631Cys
ENST00000372880.5:c.1364A>G	ENSP00000361971.1:p.Tyr455Cys
ENST00000470069.1:n.257A>G
ENST00000618050.4:c.1891A>G	ENSP00000479125.1:n.1891A>G
ENST00000621635.4:c.1994A>G	ENSP00000483570.1:p.Tyr665Cys
NM_000061.2:c.1892A>G , LRG_128t1:c.1892A>G	NP_000052.1:p.Tyr631Cys
NM_001287344.1:c.1994A>G	NP_001274273.1:p.Tyr665Cys
NM_001287345.1:c.1364A>G	NP_001274274.1:p.Tyr455Cys
NM_000061.3:c.1892A>G MANE Select	NP_000052.1:p.Tyr631Cys
NM_001287344.2:c.1994A>G	NP_001274273.1:p.Tyr665Cys
NM_001287345.2:c.1364A>G	NP_001274274.1:p.Tyr455Cys