Canonical Allele Identifier: CA413919533

Gene: BTK

Linked Data

• ClinVar Variation Id: 939796
• ClinVar RCV Id: RCV001209246
• dbSNP Id: rs1926358858
• MyVariant Identifiers: chrX:g.100608325C>A (hg19) ; chrX:g.101353337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353337C>A , CM000685.2:g.101353337C>A	GRCh38
NC_000023.10:g.100608325C>A , CM000685.1:g.100608325C>A	GRCh37
NC_000023.9:g.100494981C>A	NCBI36
NG_009616.1:g.37888G>T , LRG_128:g.37888G>T
NG_011734.1:g.633G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3282G>T
ENST00000488970.2:n.3921G>T
ENST00000695614.1:c.1765G>T	ENSP00000512053.1:p.Glu589Ter
ENST00000695615.1:c.1765G>T	ENSP00000512054.1:p.Glu589Ter
ENST00000695616.1:c.*1610G>T	ENSP00000512055.1:n.*1610G>T
ENST00000695617.1:c.1762G>T	ENSP00000512056.1:p.Glu588Ter
ENST00000695618.1:c.*1514G>T	ENSP00000512058.1:n.*1514G>T
ENST00000695619.1:c.*1475G>T	ENSP00000512059.1:n.*1475G>T
ENST00000695620.1:c.*1691G>T	ENSP00000512060.1:n.*1691G>T
ENST00000695621.1:c.*190G>T	ENSP00000512061.1:n.*190G>T
ENST00000695622.1:c.1702G>T	ENSP00000512062.1:p.Glu568Ter
ENST00000695623.1:c.1759G>T	ENSP00000512063.1:p.Glu587Ter
ENST00000695624.1:n.1070G>T
ENST00000695625.1:c.1765G>T	ENSP00000512064.1:p.Glu589Ter
ENST00000695626.1:c.520G>T	ENSP00000512065.1:n.520G>T
ENST00000695627.1:c.713G>T	ENSP00000512066.1:n.713G>T
ENST00000695628.1:c.324G>T	ENSP00000512067.1:n.324G>T
ENST00000695629.1:c.205G>T	ENSP00000512068.1:p.Glu69Ter
ENST00000695630.1:c.492G>T
ENST00000695631.1:c.115-89G>T
ENST00000703407.1:c.1237G>T	ENSP00000512057.1:p.Glu413Ter
ENST00000308731.8:c.1765G>T MANE Select	ENSP00000308176.8:p.Glu589Ter
ENST00000308731.7:c.1765G>T	ENSP00000308176.7:p.Glu589Ter
ENST00000372880.5:c.1237G>T	ENSP00000361971.1:p.Glu413Ter
ENST00000470069.1:n.130G>T
ENST00000488970.1:n.367G>T
ENST00000618050.4:c.1764G>T	ENSP00000479125.1:n.1764G>T
ENST00000621635.4:c.1867G>T	ENSP00000483570.1:p.Glu623Ter
NM_000061.2:c.1765G>T , LRG_128t1:c.1765G>T	NP_000052.1:p.Glu589Ter
NM_001287344.1:c.1867G>T	NP_001274273.1:p.Glu623Ter
NM_001287345.1:c.1237G>T	NP_001274274.1:p.Glu413Ter
NM_000061.3:c.1765G>T MANE Select	NP_000052.1:p.Glu589Ter
NM_001287344.2:c.1867G>T	NP_001274273.1:p.Glu623Ter
NM_001287345.2:c.1237G>T	NP_001274274.1:p.Glu413Ter