Canonical Allele Identifier: CA413918339

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608186T>G (hg19) ; chrX:g.101353198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353198T>G , CM000685.2:g.101353198T>G	GRCh38
NC_000023.10:g.100608186T>G , CM000685.1:g.100608186T>G	GRCh37
NC_000023.9:g.100494842T>G	NCBI36
NG_009616.1:g.38027A>C , LRG_128:g.38027A>C
NG_011734.1:g.772A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3421A>C
ENST00000488970.2:n.4060A>C
ENST00000695614.1:c.1904A>C	ENSP00000512053.1:p.His635Pro
ENST00000695615.1:c.1904A>C	ENSP00000512054.1:p.His635Pro
ENST00000695616.1:c.*1749A>C	ENSP00000512055.1:n.*1749A>C
ENST00000695617.1:c.1901A>C	ENSP00000512056.1:p.His634Pro
ENST00000695618.1:c.*1653A>C	ENSP00000512058.1:n.*1653A>C
ENST00000695619.1:c.*1614A>C	ENSP00000512059.1:n.*1614A>C
ENST00000695620.1:c.*1830A>C	ENSP00000512060.1:n.*1830A>C
ENST00000695621.1:c.*329A>C	ENSP00000512061.1:n.*329A>C
ENST00000695622.1:c.1841A>C	ENSP00000512062.1:p.His614Pro
ENST00000695623.1:c.1898A>C	ENSP00000512063.1:p.His633Pro
ENST00000695624.1:n.1209A>C
ENST00000695625.1:c.1875+29A>C	ENSP00000512064.1:n.1875+29A>C
ENST00000695626.1:c.659A>C	ENSP00000512065.1:n.659A>C
ENST00000695627.1:c.852A>C	ENSP00000512066.1:n.852A>C
ENST00000695628.1:c.463A>C	ENSP00000512067.1:n.463A>C
ENST00000695629.1:c.344A>C	ENSP00000512068.1:p.His115Pro
ENST00000695630.1:c.631A>C
ENST00000695631.1:c.165A>C
ENST00000703407.1:c.1376A>C	ENSP00000512057.1:p.His459Pro
ENST00000308731.8:c.1904A>C MANE Select	ENSP00000308176.8:p.His635Pro
ENST00000308731.7:c.1904A>C	ENSP00000308176.7:p.His635Pro
ENST00000372880.5:c.1376A>C	ENSP00000361971.1:p.His459Pro
ENST00000470069.1:n.269A>C
ENST00000618050.4:c.1903A>C	ENSP00000479125.1:n.1903A>C
ENST00000621635.4:c.2006A>C	ENSP00000483570.1:p.His669Pro
NM_000061.2:c.1904A>C , LRG_128t1:c.1904A>C	NP_000052.1:p.His635Pro
NM_001287344.1:c.2006A>C	NP_001274273.1:p.His669Pro
NM_001287345.1:c.1376A>C	NP_001274274.1:p.His459Pro
NM_000061.3:c.1904A>C MANE Select	NP_000052.1:p.His635Pro
NM_001287344.2:c.2006A>C	NP_001274273.1:p.His669Pro
NM_001287345.2:c.1376A>C	NP_001274274.1:p.His459Pro