Canonical Allele Identifier: CA413920063

Gene: BTK

Linked Data

• COSMIC: COSM5947339
• MyVariant Identifiers: chrX:g.100608873C>G (hg19) ; chrX:g.101353885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353885C>G , CM000685.2:g.101353885C>G	GRCh38
NC_000023.10:g.100608873C>G , CM000685.1:g.100608873C>G	GRCh37
NC_000023.9:g.100495529C>G	NCBI36
NG_009616.1:g.37340G>C , LRG_128:g.37340G>C
NG_011734.1:g.85G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3252G>C
ENST00000488970.2:n.3891G>C
ENST00000695614.1:c.1735G>C	ENSP00000512053.1:p.Asp579His
ENST00000695615.1:c.1735G>C	ENSP00000512054.1:p.Asp579His
ENST00000695616.1:c.*1580G>C	ENSP00000512055.1:n.*1580G>C
ENST00000695617.1:c.1732G>C	ENSP00000512056.1:p.Asp578His
ENST00000695618.1:c.*1484G>C	ENSP00000512058.1:n.*1484G>C
ENST00000695619.1:c.*1445G>C	ENSP00000512059.1:n.*1445G>C
ENST00000695620.1:c.*1661G>C	ENSP00000512060.1:n.*1661G>C
ENST00000695621.1:c.*160G>C	ENSP00000512061.1:n.*160G>C
ENST00000695622.1:c.1672G>C	ENSP00000512062.1:p.Asp558His
ENST00000695623.1:c.1729G>C	ENSP00000512063.1:p.Asp577His
ENST00000695624.1:n.1040G>C
ENST00000695625.1:c.1735G>C	ENSP00000512064.1:p.Asp579His
ENST00000695626.1:c.490G>C	ENSP00000512065.1:n.490G>C
ENST00000695627.1:c.683G>C	ENSP00000512066.1:n.683G>C
ENST00000695628.1:c.294G>C	ENSP00000512067.1:n.294G>C
ENST00000695629.1:c.191-534G>C	ENSP00000512068.1:n.191-534G>C
ENST00000695630.1:c.462G>C
ENST00000695631.1:c.115-637G>C
ENST00000703407.1:c.1207G>C	ENSP00000512057.1:p.Asp403His
ENST00000308731.8:c.1735G>C MANE Select	ENSP00000308176.8:p.Asp579His
ENST00000308731.7:c.1735G>C	ENSP00000308176.7:p.Asp579His
ENST00000372880.5:c.1207G>C	ENSP00000361971.1:p.Asp403His
ENST00000470069.1:n.100G>C
ENST00000488970.1:n.337G>C
ENST00000618050.4:c.1734G>C	ENSP00000479125.1:n.1734G>C
ENST00000621635.4:c.1837G>C	ENSP00000483570.1:p.Asp613His
NM_000061.2:c.1735G>C , LRG_128t1:c.1735G>C	NP_000052.1:p.Asp579His
NM_001287344.1:c.1837G>C	NP_001274273.1:p.Asp613His
NM_001287345.1:c.1207G>C	NP_001274274.1:p.Asp403His
NM_000061.3:c.1735G>C MANE Select	NP_000052.1:p.Asp579His
NM_001287344.2:c.1837G>C	NP_001274273.1:p.Asp613His
NM_001287345.2:c.1207G>C	NP_001274274.1:p.Asp403His