Canonical Allele Identifier: CA413918698

Gene: BTK

Linked Data

• ClinVar Variation Id: 840422
• ClinVar RCV Id: RCV001042408 ; RCV003153903
• dbSNP Id: rs1926354581
• MyVariant Identifiers: chrX:g.100608222G>A (hg19) ; chrX:g.101353234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353234G>A , CM000685.2:g.101353234G>A	GRCh38
NC_000023.10:g.100608222G>A , CM000685.1:g.100608222G>A	GRCh37
NC_000023.9:g.100494878G>A	NCBI36
NG_009616.1:g.37991C>T , LRG_128:g.37991C>T
NG_011734.1:g.736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3385C>T
ENST00000488970.2:n.4024C>T
ENST00000695614.1:c.1868C>T	ENSP00000512053.1:p.Ser623Leu
ENST00000695615.1:c.1868C>T	ENSP00000512054.1:p.Ser623Leu
ENST00000695616.1:c.*1713C>T	ENSP00000512055.1:n.*1713C>T
ENST00000695617.1:c.1865C>T	ENSP00000512056.1:p.Ser622Leu
ENST00000695618.1:c.*1617C>T	ENSP00000512058.1:n.*1617C>T
ENST00000695619.1:c.*1578C>T	ENSP00000512059.1:n.*1578C>T
ENST00000695620.1:c.*1794C>T	ENSP00000512060.1:n.*1794C>T
ENST00000695621.1:c.*293C>T	ENSP00000512061.1:n.*293C>T
ENST00000695622.1:c.1805C>T	ENSP00000512062.1:p.Ser602Leu
ENST00000695623.1:c.1862C>T	ENSP00000512063.1:p.Ser621Leu
ENST00000695624.1:n.1173C>T
ENST00000695625.1:c.1868C>T	ENSP00000512064.1:p.Ser623Leu
ENST00000695626.1:c.623C>T	ENSP00000512065.1:n.623C>T
ENST00000695627.1:c.816C>T	ENSP00000512066.1:n.816C>T
ENST00000695628.1:c.427C>T	ENSP00000512067.1:n.427C>T
ENST00000695629.1:c.308C>T	ENSP00000512068.1:p.Ser103Leu
ENST00000695630.1:c.595C>T
ENST00000695631.1:c.129C>T
ENST00000703407.1:c.1340C>T	ENSP00000512057.1:p.Ser447Leu
ENST00000308731.8:c.1868C>T MANE Select	ENSP00000308176.8:p.Ser623Leu
ENST00000308731.7:c.1868C>T	ENSP00000308176.7:p.Ser623Leu
ENST00000372880.5:c.1340C>T	ENSP00000361971.1:p.Ser447Leu
ENST00000470069.1:n.233C>T
ENST00000618050.4:c.1867C>T	ENSP00000479125.1:n.1867C>T
ENST00000621635.4:c.1970C>T	ENSP00000483570.1:p.Ser657Leu
NM_000061.2:c.1868C>T , LRG_128t1:c.1868C>T	NP_000052.1:p.Ser623Leu
NM_001287344.1:c.1970C>T	NP_001274273.1:p.Ser657Leu
NM_001287345.1:c.1340C>T	NP_001274274.1:p.Ser447Leu
NM_000061.3:c.1868C>T MANE Select	NP_000052.1:p.Ser623Leu
NM_001287344.2:c.1970C>T	NP_001274273.1:p.Ser657Leu
NM_001287345.2:c.1340C>T	NP_001274274.1:p.Ser447Leu