Canonical Allele Identifier: CA517529663

Gene: BTK

Linked Data

• dbSNP Id: rs1926355980
• gnomAD v4: X-101353275-G-A
• MyVariant Identifiers: chrX:g.100608263G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353275G>A , CM000685.2:g.101353275G>A	GRCh38
NC_000023.10:g.100608263G>A , CM000685.1:g.100608263G>A	GRCh37
NC_000023.9:g.100494919G>A	NCBI36
NG_009616.1:g.37950C>T , LRG_128:g.37950C>T
NG_011734.1:g.695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3344C>T
ENST00000488970.2:n.3983C>T
ENST00000695614.1:c.1827C>T	ENSP00000512053.1:p.His609=
ENST00000695615.1:c.1827C>T	ENSP00000512054.1:p.His609=
ENST00000695616.1:c.*1672C>T	ENSP00000512055.1:n.*1672C>T
ENST00000695617.1:c.1824C>T	ENSP00000512056.1:p.His608=
ENST00000695618.1:c.*1576C>T	ENSP00000512058.1:n.*1576C>T
ENST00000695619.1:c.*1537C>T	ENSP00000512059.1:n.*1537C>T
ENST00000695620.1:c.*1753C>T	ENSP00000512060.1:n.*1753C>T
ENST00000695621.1:c.*252C>T	ENSP00000512061.1:n.*252C>T
ENST00000695622.1:c.1764C>T	ENSP00000512062.1:p.His588=
ENST00000695623.1:c.1821C>T	ENSP00000512063.1:p.His607=
ENST00000695624.1:n.1132C>T
ENST00000695625.1:c.1827C>T	ENSP00000512064.1:p.His609=
ENST00000695626.1:c.582C>T	ENSP00000512065.1:n.582C>T
ENST00000695627.1:c.775C>T	ENSP00000512066.1:n.775C>T
ENST00000695628.1:c.386C>T	ENSP00000512067.1:n.386C>T
ENST00000695629.1:c.267C>T	ENSP00000512068.1:p.His89=
ENST00000695630.1:c.554C>T
ENST00000695631.1:c.115-27C>T
ENST00000703407.1:c.1299C>T	ENSP00000512057.1:p.His433=
ENST00000308731.8:c.1827C>T MANE Select	ENSP00000308176.8:p.His609=
ENST00000308731.7:c.1827C>T	ENSP00000308176.7:p.His609=
ENST00000372880.5:c.1299C>T	ENSP00000361971.1:p.His433=
ENST00000470069.1:n.192C>T
ENST00000618050.4:c.1826C>T	ENSP00000479125.1:n.1826C>T
ENST00000621635.4:c.1929C>T	ENSP00000483570.1:p.His643=
NM_000061.2:c.1827C>T , LRG_128t1:c.1827C>T	NP_000052.1:p.His609=
NM_001287344.1:c.1929C>T	NP_001274273.1:p.His643=
NM_001287345.1:c.1299C>T	NP_001274274.1:p.His433=
NM_000061.3:c.1827C>T MANE Select	NP_000052.1:p.His609=
NM_001287344.2:c.1929C>T	NP_001274273.1:p.His643=
NM_001287345.2:c.1299C>T	NP_001274274.1:p.His433=