Canonical Allele Identifier: CA517529480

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608194A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353206A>G , CM000685.2:g.101353206A>G	GRCh38
NC_000023.10:g.100608194A>G , CM000685.1:g.100608194A>G	GRCh37
NC_000023.9:g.100494850A>G	NCBI36
NG_009616.1:g.38019T>C , LRG_128:g.38019T>C
NG_011734.1:g.764T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3413T>C
ENST00000488970.2:n.4052T>C
ENST00000695614.1:c.1896T>C	ENSP00000512053.1:p.Ser632=
ENST00000695615.1:c.1896T>C	ENSP00000512054.1:p.Ser632=
ENST00000695616.1:c.*1741T>C	ENSP00000512055.1:n.*1741T>C
ENST00000695617.1:c.1893T>C	ENSP00000512056.1:p.Ser631=
ENST00000695618.1:c.*1645T>C	ENSP00000512058.1:n.*1645T>C
ENST00000695619.1:c.*1606T>C	ENSP00000512059.1:n.*1606T>C
ENST00000695620.1:c.*1822T>C	ENSP00000512060.1:n.*1822T>C
ENST00000695621.1:c.*321T>C	ENSP00000512061.1:n.*321T>C
ENST00000695622.1:c.1833T>C	ENSP00000512062.1:p.Ser611=
ENST00000695623.1:c.1890T>C	ENSP00000512063.1:p.Ser630=
ENST00000695624.1:n.1201T>C
ENST00000695625.1:c.1875+21T>C	ENSP00000512064.1:n.1875+21T>C
ENST00000695626.1:c.651T>C	ENSP00000512065.1:n.651T>C
ENST00000695627.1:c.844T>C	ENSP00000512066.1:n.844T>C
ENST00000695628.1:c.455T>C	ENSP00000512067.1:n.455T>C
ENST00000695629.1:c.336T>C	ENSP00000512068.1:p.Ser112=
ENST00000695630.1:c.623T>C
ENST00000695631.1:c.157T>C
ENST00000703407.1:c.1368T>C	ENSP00000512057.1:p.Ser456=
ENST00000308731.8:c.1896T>C MANE Select	ENSP00000308176.8:p.Ser632=
ENST00000308731.7:c.1896T>C	ENSP00000308176.7:p.Ser632=
ENST00000372880.5:c.1368T>C	ENSP00000361971.1:p.Ser456=
ENST00000470069.1:n.261T>C
ENST00000618050.4:c.1895T>C	ENSP00000479125.1:n.1895T>C
ENST00000621635.4:c.1998T>C	ENSP00000483570.1:p.Ser666=
NM_000061.2:c.1896T>C , LRG_128t1:c.1896T>C	NP_000052.1:p.Ser632=
NM_001287344.1:c.1998T>C	NP_001274273.1:p.Ser666=
NM_001287345.1:c.1368T>C	NP_001274274.1:p.Ser456=
NM_000061.3:c.1896T>C MANE Select	NP_000052.1:p.Ser632=
NM_001287344.2:c.1998T>C	NP_001274273.1:p.Ser666=
NM_001287345.2:c.1368T>C	NP_001274274.1:p.Ser456=