Canonical Allele Identifier: CA413918938

Gene: BTK

Linked Data

• dbSNP Id: rs1926355626
• MyVariant Identifiers: chrX:g.100608254T>G (hg19) ; chrX:g.101353266T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353266T>G , CM000685.2:g.101353266T>G	GRCh38
NC_000023.10:g.100608254T>G , CM000685.1:g.100608254T>G	GRCh37
NC_000023.9:g.100494910T>G	NCBI36
NG_009616.1:g.37959A>C , LRG_128:g.37959A>C
NG_011734.1:g.704A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3353A>C
ENST00000488970.2:n.3992A>C
ENST00000695614.1:c.1836A>C	ENSP00000512053.1:p.Gln612His
ENST00000695615.1:c.1836A>C	ENSP00000512054.1:p.Gln612His
ENST00000695616.1:c.*1681A>C	ENSP00000512055.1:n.*1681A>C
ENST00000695617.1:c.1833A>C	ENSP00000512056.1:p.Gln611His
ENST00000695618.1:c.*1585A>C	ENSP00000512058.1:n.*1585A>C
ENST00000695619.1:c.*1546A>C	ENSP00000512059.1:n.*1546A>C
ENST00000695620.1:c.*1762A>C	ENSP00000512060.1:n.*1762A>C
ENST00000695621.1:c.*261A>C	ENSP00000512061.1:n.*261A>C
ENST00000695622.1:c.1773A>C	ENSP00000512062.1:p.Gln591His
ENST00000695623.1:c.1830A>C	ENSP00000512063.1:p.Gln610His
ENST00000695624.1:n.1141A>C
ENST00000695625.1:c.1836A>C	ENSP00000512064.1:p.Gln612His
ENST00000695626.1:c.591A>C	ENSP00000512065.1:n.591A>C
ENST00000695627.1:c.784A>C	ENSP00000512066.1:n.784A>C
ENST00000695628.1:c.395A>C	ENSP00000512067.1:n.395A>C
ENST00000695629.1:c.276A>C	ENSP00000512068.1:p.Gln92His
ENST00000695630.1:c.563A>C
ENST00000695631.1:c.115-18A>C
ENST00000703407.1:c.1308A>C	ENSP00000512057.1:p.Gln436His
ENST00000308731.8:c.1836A>C MANE Select	ENSP00000308176.8:p.Gln612His
ENST00000308731.7:c.1836A>C	ENSP00000308176.7:p.Gln612His
ENST00000372880.5:c.1308A>C	ENSP00000361971.1:p.Gln436His
ENST00000470069.1:n.201A>C
ENST00000618050.4:c.1835A>C	ENSP00000479125.1:n.1835A>C
ENST00000621635.4:c.1938A>C	ENSP00000483570.1:p.Gln646His
NM_000061.2:c.1836A>C , LRG_128t1:c.1836A>C	NP_000052.1:p.Gln612His
NM_001287344.1:c.1938A>C	NP_001274273.1:p.Gln646His
NM_001287345.1:c.1308A>C	NP_001274274.1:p.Gln436His
NM_000061.3:c.1836A>C MANE Select	NP_000052.1:p.Gln612His
NM_001287344.2:c.1938A>C	NP_001274273.1:p.Gln646His
NM_001287345.2:c.1308A>C	NP_001274274.1:p.Gln436His