Canonical Allele Identifier: CA413918358

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608188C>A (hg19) ; chrX:g.101353200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353200C>A , CM000685.2:g.101353200C>A	GRCh38
NC_000023.10:g.100608188C>A , CM000685.1:g.100608188C>A	GRCh37
NC_000023.9:g.100494844C>A	NCBI36
NG_009616.1:g.38025G>T , LRG_128:g.38025G>T
NG_011734.1:g.770G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3419G>T
ENST00000488970.2:n.4058G>T
ENST00000695614.1:c.1902G>T	ENSP00000512053.1:p.Trp634Cys
ENST00000695615.1:c.1902G>T	ENSP00000512054.1:p.Trp634Cys
ENST00000695616.1:c.*1747G>T	ENSP00000512055.1:n.*1747G>T
ENST00000695617.1:c.1899G>T	ENSP00000512056.1:p.Trp633Cys
ENST00000695618.1:c.*1651G>T	ENSP00000512058.1:n.*1651G>T
ENST00000695619.1:c.*1612G>T	ENSP00000512059.1:n.*1612G>T
ENST00000695620.1:c.*1828G>T	ENSP00000512060.1:n.*1828G>T
ENST00000695621.1:c.*327G>T	ENSP00000512061.1:n.*327G>T
ENST00000695622.1:c.1839G>T	ENSP00000512062.1:p.Trp613Cys
ENST00000695623.1:c.1896G>T	ENSP00000512063.1:p.Trp632Cys
ENST00000695624.1:n.1207G>T
ENST00000695625.1:c.1875+27G>T	ENSP00000512064.1:n.1875+27G>T
ENST00000695626.1:c.657G>T	ENSP00000512065.1:n.657G>T
ENST00000695627.1:c.850G>T	ENSP00000512066.1:n.850G>T
ENST00000695628.1:c.461G>T	ENSP00000512067.1:n.461G>T
ENST00000695629.1:c.342G>T	ENSP00000512068.1:p.Trp114Cys
ENST00000695630.1:c.629G>T
ENST00000695631.1:c.163G>T
ENST00000703407.1:c.1374G>T	ENSP00000512057.1:p.Trp458Cys
ENST00000308731.8:c.1902G>T MANE Select	ENSP00000308176.8:p.Trp634Cys
ENST00000308731.7:c.1902G>T	ENSP00000308176.7:p.Trp634Cys
ENST00000372880.5:c.1374G>T	ENSP00000361971.1:p.Trp458Cys
ENST00000470069.1:n.267G>T
ENST00000618050.4:c.1901G>T	ENSP00000479125.1:n.1901G>T
ENST00000621635.4:c.2004G>T	ENSP00000483570.1:p.Trp668Cys
NM_000061.2:c.1902G>T , LRG_128t1:c.1902G>T	NP_000052.1:p.Trp634Cys
NM_001287344.1:c.2004G>T	NP_001274273.1:p.Trp668Cys
NM_001287345.1:c.1374G>T	NP_001274274.1:p.Trp458Cys
NM_000061.3:c.1902G>T MANE Select	NP_000052.1:p.Trp634Cys
NM_001287344.2:c.2004G>T	NP_001274273.1:p.Trp668Cys
NM_001287345.2:c.1374G>T	NP_001274274.1:p.Trp458Cys