Canonical Allele Identifier: CA413919226

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608288A>G (hg19) ; chrX:g.101353300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353300A>G , CM000685.2:g.101353300A>G	GRCh38
NC_000023.10:g.100608288A>G , CM000685.1:g.100608288A>G	GRCh37
NC_000023.9:g.100494944A>G	NCBI36
NG_009616.1:g.37925T>C , LRG_128:g.37925T>C
NG_011734.1:g.670T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3319T>C
ENST00000488970.2:n.3958T>C
ENST00000695614.1:c.1802T>C	ENSP00000512053.1:p.Phe601Ser
ENST00000695615.1:c.1802T>C	ENSP00000512054.1:p.Phe601Ser
ENST00000695616.1:c.*1647T>C	ENSP00000512055.1:n.*1647T>C
ENST00000695617.1:c.1799T>C	ENSP00000512056.1:p.Phe600Ser
ENST00000695618.1:c.*1551T>C	ENSP00000512058.1:n.*1551T>C
ENST00000695619.1:c.*1512T>C	ENSP00000512059.1:n.*1512T>C
ENST00000695620.1:c.*1728T>C	ENSP00000512060.1:n.*1728T>C
ENST00000695621.1:c.*227T>C	ENSP00000512061.1:n.*227T>C
ENST00000695622.1:c.1739T>C	ENSP00000512062.1:p.Phe580Ser
ENST00000695623.1:c.1796T>C	ENSP00000512063.1:p.Phe599Ser
ENST00000695624.1:n.1107T>C
ENST00000695625.1:c.1802T>C	ENSP00000512064.1:p.Phe601Ser
ENST00000695626.1:c.557T>C	ENSP00000512065.1:n.557T>C
ENST00000695627.1:c.750T>C	ENSP00000512066.1:n.750T>C
ENST00000695628.1:c.361T>C	ENSP00000512067.1:n.361T>C
ENST00000695629.1:c.242T>C	ENSP00000512068.1:p.Phe81Ser
ENST00000695630.1:c.529T>C
ENST00000695631.1:c.115-52T>C
ENST00000703407.1:c.1274T>C	ENSP00000512057.1:p.Phe425Ser
ENST00000308731.8:c.1802T>C MANE Select	ENSP00000308176.8:p.Phe601Ser
ENST00000308731.7:c.1802T>C	ENSP00000308176.7:p.Phe601Ser
ENST00000372880.5:c.1274T>C	ENSP00000361971.1:p.Phe425Ser
ENST00000470069.1:n.167T>C
ENST00000618050.4:c.1801T>C	ENSP00000479125.1:n.1801T>C
ENST00000621635.4:c.1904T>C	ENSP00000483570.1:p.Phe635Ser
NM_000061.2:c.1802T>C , LRG_128t1:c.1802T>C	NP_000052.1:p.Phe601Ser
NM_001287344.1:c.1904T>C	NP_001274273.1:p.Phe635Ser
NM_001287345.1:c.1274T>C	NP_001274274.1:p.Phe425Ser
NM_000061.3:c.1802T>C MANE Select	NP_000052.1:p.Phe601Ser
NM_001287344.2:c.1904T>C	NP_001274273.1:p.Phe635Ser
NM_001287345.2:c.1274T>C	NP_001274274.1:p.Phe425Ser