Canonical Allele Identifier: CA413917454

Gene: BTK

Linked Data

• ClinVar Variation Id: 427054
• ClinVar RCV Id: RCV000489889
• dbSNP Id: rs1085307927
• gnomAD v4: X-101349887-A-C
• MyVariant Identifiers: chrX:g.100604875A>C (hg19) ; chrX:g.101349887A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349887A>C , CM000685.2:g.101349887A>C	GRCh38
NC_000023.10:g.100604875A>C , CM000685.1:g.100604875A>C	GRCh37
NC_000023.9:g.100491531A>C	NCBI36
NG_009616.1:g.41338T>G , LRG_128:g.41338T>G
NG_011734.1:g.4083T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3495T>G
ENST00000488970.2:n.4134T>G
ENST00000695614.1:c.1978T>G	ENSP00000512053.1:p.Ter660Gly
ENST00000695615.1:c.1978T>G	ENSP00000512054.1:p.Ter660Gly
ENST00000695616.1:c.*1823T>G	ENSP00000512055.1:n.*1823T>G
ENST00000695617.1:c.1975T>G	ENSP00000512056.1:p.Ter659Gly
ENST00000695618.1:c.*1727T>G	ENSP00000512058.1:n.*1727T>G
ENST00000695619.1:c.*1688T>G	ENSP00000512059.1:n.*1688T>G
ENST00000695620.1:c.*1904T>G	ENSP00000512060.1:n.*1904T>G
ENST00000695621.1:c.*403T>G	ENSP00000512061.1:n.*403T>G
ENST00000695622.1:c.1915T>G	ENSP00000512062.1:p.Ter639Gly
ENST00000695623.1:c.1972T>G	ENSP00000512063.1:p.Ter658Gly
ENST00000695624.1:n.1283T>G
ENST00000695625.1:c.1945T>G	ENSP00000512064.1:p.Ter649Gly
ENST00000695626.1:c.733T>G	ENSP00000512065.1:n.733T>G
ENST00000695627.1:c.926T>G	ENSP00000512066.1:n.926T>G
ENST00000695628.1:c.537T>G	ENSP00000512067.1:n.537T>G
ENST00000695629.1:c.418T>G	ENSP00000512068.1:p.Ter140Gly
ENST00000695630.1:c.705T>G
ENST00000703407.1:c.1450T>G	ENSP00000512057.1:p.Ter484Gly
ENST00000308731.8:c.1978T>G MANE Select	ENSP00000308176.8:p.Ter660Gly
ENST00000308731.7:c.1978T>G	ENSP00000308176.7:p.Ter660Gly
ENST00000372880.5:c.1450T>G	ENSP00000361971.1:p.Ter484Gly
ENST00000618050.4:c.1977T>G	ENSP00000479125.1:n.1977T>G
ENST00000621635.4:c.2080T>G	ENSP00000483570.1:p.Ter694Gly
NM_000061.2:c.1978T>G , LRG_128t1:c.1978T>G	NP_000052.1:p.Ter660Gly
NM_001287344.1:c.2080T>G	NP_001274273.1:p.Ter694Gly
NM_001287345.1:c.1450T>G	NP_001274274.1:p.Ter484Gly
NM_000061.3:c.1978T>G MANE Select	NP_000052.1:p.Ter660Gly
NM_001287344.2:c.2080T>G	NP_001274273.1:p.Ter694Gly
NM_001287345.2:c.1450T>G	NP_001274274.1:p.Ter484Gly