Canonical Allele Identifier: CA413918454

Gene: BTK

Linked Data

• ClinVar Variation Id: 2737283
• ClinVar RCV Id: RCV003513678
• gnomAD v4: X-101353209-G-C
• MyVariant Identifiers: chrX:g.100608197G>C (hg19) ; chrX:g.101353209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353209G>C , CM000685.2:g.101353209G>C	GRCh38
NC_000023.10:g.100608197G>C , CM000685.1:g.100608197G>C	GRCh37
NC_000023.9:g.100494853G>C	NCBI36
NG_009616.1:g.38016C>G , LRG_128:g.38016C>G
NG_011734.1:g.761C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3410C>G
ENST00000488970.2:n.4049C>G
ENST00000695614.1:c.1893C>G	ENSP00000512053.1:p.Tyr631Ter
ENST00000695615.1:c.1893C>G	ENSP00000512054.1:p.Tyr631Ter
ENST00000695616.1:c.*1738C>G	ENSP00000512055.1:n.*1738C>G
ENST00000695617.1:c.1890C>G	ENSP00000512056.1:p.Tyr630Ter
ENST00000695618.1:c.*1642C>G	ENSP00000512058.1:n.*1642C>G
ENST00000695619.1:c.*1603C>G	ENSP00000512059.1:n.*1603C>G
ENST00000695620.1:c.*1819C>G	ENSP00000512060.1:n.*1819C>G
ENST00000695621.1:c.*318C>G	ENSP00000512061.1:n.*318C>G
ENST00000695622.1:c.1830C>G	ENSP00000512062.1:p.Tyr610Ter
ENST00000695623.1:c.1887C>G	ENSP00000512063.1:p.Tyr629Ter
ENST00000695624.1:n.1198C>G
ENST00000695625.1:c.1875+18C>G	ENSP00000512064.1:n.1875+18C>G
ENST00000695626.1:c.648C>G	ENSP00000512065.1:n.648C>G
ENST00000695627.1:c.841C>G	ENSP00000512066.1:n.841C>G
ENST00000695628.1:c.452C>G	ENSP00000512067.1:n.452C>G
ENST00000695629.1:c.333C>G	ENSP00000512068.1:p.Tyr111Ter
ENST00000695630.1:c.620C>G
ENST00000695631.1:c.154C>G
ENST00000703407.1:c.1365C>G	ENSP00000512057.1:p.Tyr455Ter
ENST00000308731.8:c.1893C>G MANE Select	ENSP00000308176.8:p.Tyr631Ter
ENST00000308731.7:c.1893C>G	ENSP00000308176.7:p.Tyr631Ter
ENST00000372880.5:c.1365C>G	ENSP00000361971.1:p.Tyr455Ter
ENST00000470069.1:n.258C>G
ENST00000618050.4:c.1892C>G	ENSP00000479125.1:n.1892C>G
ENST00000621635.4:c.1995C>G	ENSP00000483570.1:p.Tyr665Ter
NM_000061.2:c.1893C>G , LRG_128t1:c.1893C>G	NP_000052.1:p.Tyr631Ter
NM_001287344.1:c.1995C>G	NP_001274273.1:p.Tyr665Ter
NM_001287345.1:c.1365C>G	NP_001274274.1:p.Tyr455Ter
NM_000061.3:c.1893C>G MANE Select	NP_000052.1:p.Tyr631Ter
NM_001287344.2:c.1995C>G	NP_001274273.1:p.Tyr665Ter
NM_001287345.2:c.1365C>G	NP_001274274.1:p.Tyr455Ter