Canonical Allele Identifier: CA413919430

Gene: BTK

Linked Data

• dbSNP Id: rs2147424186
• MyVariant Identifiers: chrX:g.100608309C>A (hg19) ; chrX:g.101353321C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353321C>A , CM000685.2:g.101353321C>A	GRCh38
NC_000023.10:g.100608309C>A , CM000685.1:g.100608309C>A	GRCh37
NC_000023.9:g.100494965C>A	NCBI36
NG_009616.1:g.37904G>T , LRG_128:g.37904G>T
NG_011734.1:g.649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3298G>T
ENST00000488970.2:n.3937G>T
ENST00000695614.1:c.1781G>T	ENSP00000512053.1:p.Gly594Val
ENST00000695615.1:c.1781G>T	ENSP00000512054.1:p.Gly594Val
ENST00000695616.1:c.*1626G>T	ENSP00000512055.1:n.*1626G>T
ENST00000695617.1:c.1778G>T	ENSP00000512056.1:p.Gly593Val
ENST00000695618.1:c.*1530G>T	ENSP00000512058.1:n.*1530G>T
ENST00000695619.1:c.*1491G>T	ENSP00000512059.1:n.*1491G>T
ENST00000695620.1:c.*1707G>T	ENSP00000512060.1:n.*1707G>T
ENST00000695621.1:c.*206G>T	ENSP00000512061.1:n.*206G>T
ENST00000695622.1:c.1718G>T	ENSP00000512062.1:p.Gly573Val
ENST00000695623.1:c.1775G>T	ENSP00000512063.1:p.Gly592Val
ENST00000695624.1:n.1086G>T
ENST00000695625.1:c.1781G>T	ENSP00000512064.1:p.Gly594Val
ENST00000695626.1:c.536G>T	ENSP00000512065.1:n.536G>T
ENST00000695627.1:c.729G>T	ENSP00000512066.1:n.729G>T
ENST00000695628.1:c.340G>T	ENSP00000512067.1:n.340G>T
ENST00000695629.1:c.221G>T	ENSP00000512068.1:p.Gly74Val
ENST00000695630.1:c.508G>T
ENST00000695631.1:c.115-73G>T
ENST00000703407.1:c.1253G>T	ENSP00000512057.1:p.Gly418Val
ENST00000308731.8:c.1781G>T MANE Select	ENSP00000308176.8:p.Gly594Val
ENST00000308731.7:c.1781G>T	ENSP00000308176.7:p.Gly594Val
ENST00000372880.5:c.1253G>T	ENSP00000361971.1:p.Gly418Val
ENST00000470069.1:n.146G>T
ENST00000488970.1:n.383G>T
ENST00000618050.4:c.1780G>T	ENSP00000479125.1:n.1780G>T
ENST00000621635.4:c.1883G>T	ENSP00000483570.1:p.Gly628Val
NM_000061.2:c.1781G>T , LRG_128t1:c.1781G>T	NP_000052.1:p.Gly594Val
NM_001287344.1:c.1883G>T	NP_001274273.1:p.Gly628Val
NM_001287345.1:c.1253G>T	NP_001274274.1:p.Gly418Val
NM_000061.3:c.1781G>T MANE Select	NP_000052.1:p.Gly594Val
NM_001287344.2:c.1883G>T	NP_001274273.1:p.Gly628Val
NM_001287345.2:c.1253G>T	NP_001274274.1:p.Gly418Val