Canonical Allele Identifier: CA517529558

Gene: BTK

Linked Data

• dbSNP Id: rs1249063959
• gnomAD v3: X-101353233-T-C
• gnomAD v4: X-101353233-T-C
• MyVariant Identifiers: chrX:g.100608221T>C (hg19) ; chrX:g.101353233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353233T>C , CM000685.2:g.101353233T>C	GRCh38
NC_000023.10:g.100608221T>C , CM000685.1:g.100608221T>C	GRCh37
NC_000023.9:g.100494877T>C	NCBI36
NG_009616.1:g.37992A>G , LRG_128:g.37992A>G
NG_011734.1:g.737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3386A>G
ENST00000488970.2:n.4025A>G
ENST00000695614.1:c.1869A>G	ENSP00000512053.1:p.Ser623=
ENST00000695615.1:c.1869A>G	ENSP00000512054.1:p.Ser623=
ENST00000695616.1:c.*1714A>G	ENSP00000512055.1:n.*1714A>G
ENST00000695617.1:c.1866A>G	ENSP00000512056.1:p.Ser622=
ENST00000695618.1:c.*1618A>G	ENSP00000512058.1:n.*1618A>G
ENST00000695619.1:c.*1579A>G	ENSP00000512059.1:n.*1579A>G
ENST00000695620.1:c.*1795A>G	ENSP00000512060.1:n.*1795A>G
ENST00000695621.1:c.*294A>G	ENSP00000512061.1:n.*294A>G
ENST00000695622.1:c.1806A>G	ENSP00000512062.1:p.Ser602=
ENST00000695623.1:c.1863A>G	ENSP00000512063.1:p.Ser621=
ENST00000695624.1:n.1174A>G
ENST00000695625.1:c.1869A>G	ENSP00000512064.1:p.Ser623=
ENST00000695626.1:c.624A>G	ENSP00000512065.1:n.624A>G
ENST00000695627.1:c.817A>G	ENSP00000512066.1:n.817A>G
ENST00000695628.1:c.428A>G	ENSP00000512067.1:n.428A>G
ENST00000695629.1:c.309A>G	ENSP00000512068.1:p.Ser103=
ENST00000695630.1:c.596A>G
ENST00000695631.1:c.130A>G
ENST00000703407.1:c.1341A>G	ENSP00000512057.1:p.Ser447=
ENST00000308731.8:c.1869A>G MANE Select	ENSP00000308176.8:p.Ser623=
ENST00000308731.7:c.1869A>G	ENSP00000308176.7:p.Ser623=
ENST00000372880.5:c.1341A>G	ENSP00000361971.1:p.Ser447=
ENST00000470069.1:n.234A>G
ENST00000618050.4:c.1868A>G	ENSP00000479125.1:n.1868A>G
ENST00000621635.4:c.1971A>G	ENSP00000483570.1:p.Ser657=
NM_000061.2:c.1869A>G , LRG_128t1:c.1869A>G	NP_000052.1:p.Ser623=
NM_001287344.1:c.1971A>G	NP_001274273.1:p.Ser657=
NM_001287345.1:c.1341A>G	NP_001274274.1:p.Ser447=
NM_000061.3:c.1869A>G MANE Select	NP_000052.1:p.Ser623=
NM_001287344.2:c.1971A>G	NP_001274273.1:p.Ser657=
NM_001287345.2:c.1341A>G	NP_001274274.1:p.Ser447=