Canonical Allele Identifier: CA517529718

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608296A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353308A>G , CM000685.2:g.101353308A>G	GRCh38
NC_000023.10:g.100608296A>G , CM000685.1:g.100608296A>G	GRCh37
NC_000023.9:g.100494952A>G	NCBI36
NG_009616.1:g.37917T>C , LRG_128:g.37917T>C
NG_011734.1:g.662T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3311T>C
ENST00000488970.2:n.3950T>C
ENST00000695614.1:c.1794T>C	ENSP00000512053.1:p.Tyr598=
ENST00000695615.1:c.1794T>C	ENSP00000512054.1:p.Tyr598=
ENST00000695616.1:c.*1639T>C	ENSP00000512055.1:n.*1639T>C
ENST00000695617.1:c.1791T>C	ENSP00000512056.1:p.Tyr597=
ENST00000695618.1:c.*1543T>C	ENSP00000512058.1:n.*1543T>C
ENST00000695619.1:c.*1504T>C	ENSP00000512059.1:n.*1504T>C
ENST00000695620.1:c.*1720T>C	ENSP00000512060.1:n.*1720T>C
ENST00000695621.1:c.*219T>C	ENSP00000512061.1:n.*219T>C
ENST00000695622.1:c.1731T>C	ENSP00000512062.1:p.Tyr577=
ENST00000695623.1:c.1788T>C	ENSP00000512063.1:p.Tyr596=
ENST00000695624.1:n.1099T>C
ENST00000695625.1:c.1794T>C	ENSP00000512064.1:p.Tyr598=
ENST00000695626.1:c.549T>C	ENSP00000512065.1:n.549T>C
ENST00000695627.1:c.742T>C	ENSP00000512066.1:n.742T>C
ENST00000695628.1:c.353T>C	ENSP00000512067.1:n.353T>C
ENST00000695629.1:c.234T>C	ENSP00000512068.1:p.Tyr78=
ENST00000695630.1:c.521T>C
ENST00000695631.1:c.115-60T>C
ENST00000703407.1:c.1266T>C	ENSP00000512057.1:p.Tyr422=
ENST00000308731.8:c.1794T>C MANE Select	ENSP00000308176.8:p.Tyr598=
ENST00000308731.7:c.1794T>C	ENSP00000308176.7:p.Tyr598=
ENST00000372880.5:c.1266T>C	ENSP00000361971.1:p.Tyr422=
ENST00000470069.1:n.159T>C
ENST00000618050.4:c.1793T>C	ENSP00000479125.1:n.1793T>C
ENST00000621635.4:c.1896T>C	ENSP00000483570.1:p.Tyr632=
NM_000061.2:c.1794T>C , LRG_128t1:c.1794T>C	NP_000052.1:p.Tyr598=
NM_001287344.1:c.1896T>C	NP_001274273.1:p.Tyr632=
NM_001287345.1:c.1266T>C	NP_001274274.1:p.Tyr422=
NM_000061.3:c.1794T>C MANE Select	NP_000052.1:p.Tyr598=
NM_001287344.2:c.1896T>C	NP_001274273.1:p.Tyr632=
NM_001287345.2:c.1266T>C	NP_001274274.1:p.Tyr422=