Canonical Allele Identifier: CA413918402

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608192C>G (hg19) ; chrX:g.101353204C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353204C>G , CM000685.2:g.101353204C>G	GRCh38
NC_000023.10:g.100608192C>G , CM000685.1:g.100608192C>G	GRCh37
NC_000023.9:g.100494848C>G	NCBI36
NG_009616.1:g.38021G>C , LRG_128:g.38021G>C
NG_011734.1:g.766G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3415G>C
ENST00000488970.2:n.4054G>C
ENST00000695614.1:c.1898G>C	ENSP00000512053.1:p.Cys633Ser
ENST00000695615.1:c.1898G>C	ENSP00000512054.1:p.Cys633Ser
ENST00000695616.1:c.*1743G>C	ENSP00000512055.1:n.*1743G>C
ENST00000695617.1:c.1895G>C	ENSP00000512056.1:p.Cys632Ser
ENST00000695618.1:c.*1647G>C	ENSP00000512058.1:n.*1647G>C
ENST00000695619.1:c.*1608G>C	ENSP00000512059.1:n.*1608G>C
ENST00000695620.1:c.*1824G>C	ENSP00000512060.1:n.*1824G>C
ENST00000695621.1:c.*323G>C	ENSP00000512061.1:n.*323G>C
ENST00000695622.1:c.1835G>C	ENSP00000512062.1:p.Cys612Ser
ENST00000695623.1:c.1892G>C	ENSP00000512063.1:p.Cys631Ser
ENST00000695624.1:n.1203G>C
ENST00000695625.1:c.1875+23G>C	ENSP00000512064.1:n.1875+23G>C
ENST00000695626.1:c.653G>C	ENSP00000512065.1:n.653G>C
ENST00000695627.1:c.846G>C	ENSP00000512066.1:n.846G>C
ENST00000695628.1:c.457G>C	ENSP00000512067.1:n.457G>C
ENST00000695629.1:c.338G>C	ENSP00000512068.1:p.Cys113Ser
ENST00000695630.1:c.625G>C
ENST00000695631.1:c.159G>C
ENST00000703407.1:c.1370G>C	ENSP00000512057.1:p.Cys457Ser
ENST00000308731.8:c.1898G>C MANE Select	ENSP00000308176.8:p.Cys633Ser
ENST00000308731.7:c.1898G>C	ENSP00000308176.7:p.Cys633Ser
ENST00000372880.5:c.1370G>C	ENSP00000361971.1:p.Cys457Ser
ENST00000470069.1:n.263G>C
ENST00000618050.4:c.1897G>C	ENSP00000479125.1:n.1897G>C
ENST00000621635.4:c.2000G>C	ENSP00000483570.1:p.Cys667Ser
NM_000061.2:c.1898G>C , LRG_128t1:c.1898G>C	NP_000052.1:p.Cys633Ser
NM_001287344.1:c.2000G>C	NP_001274273.1:p.Cys667Ser
NM_001287345.1:c.1370G>C	NP_001274274.1:p.Cys457Ser
NM_000061.3:c.1898G>C MANE Select	NP_000052.1:p.Cys633Ser
NM_001287344.2:c.2000G>C	NP_001274273.1:p.Cys667Ser
NM_001287345.2:c.1370G>C	NP_001274274.1:p.Cys457Ser