Canonical Allele Identifier: CA413918463

Gene: BTK

Linked Data

• gnomAD v4: X-101353210-T-G
• MyVariant Identifiers: chrX:g.100608198T>G (hg19) ; chrX:g.101353210T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353210T>G , CM000685.2:g.101353210T>G	GRCh38
NC_000023.10:g.100608198T>G , CM000685.1:g.100608198T>G	GRCh37
NC_000023.9:g.100494854T>G	NCBI36
NG_009616.1:g.38015A>C , LRG_128:g.38015A>C
NG_011734.1:g.760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3409A>C
ENST00000488970.2:n.4048A>C
ENST00000695614.1:c.1892A>C	ENSP00000512053.1:p.Tyr631Ser
ENST00000695615.1:c.1892A>C	ENSP00000512054.1:p.Tyr631Ser
ENST00000695616.1:c.*1737A>C	ENSP00000512055.1:n.*1737A>C
ENST00000695617.1:c.1889A>C	ENSP00000512056.1:p.Tyr630Ser
ENST00000695618.1:c.*1641A>C	ENSP00000512058.1:n.*1641A>C
ENST00000695619.1:c.*1602A>C	ENSP00000512059.1:n.*1602A>C
ENST00000695620.1:c.*1818A>C	ENSP00000512060.1:n.*1818A>C
ENST00000695621.1:c.*317A>C	ENSP00000512061.1:n.*317A>C
ENST00000695622.1:c.1829A>C	ENSP00000512062.1:p.Tyr610Ser
ENST00000695623.1:c.1886A>C	ENSP00000512063.1:p.Tyr629Ser
ENST00000695624.1:n.1197A>C
ENST00000695625.1:c.1875+17A>C	ENSP00000512064.1:n.1875+17A>C
ENST00000695626.1:c.647A>C	ENSP00000512065.1:n.647A>C
ENST00000695627.1:c.840A>C	ENSP00000512066.1:n.840A>C
ENST00000695628.1:c.451A>C	ENSP00000512067.1:n.451A>C
ENST00000695629.1:c.332A>C	ENSP00000512068.1:p.Tyr111Ser
ENST00000695630.1:c.619A>C
ENST00000695631.1:c.153A>C
ENST00000703407.1:c.1364A>C	ENSP00000512057.1:p.Tyr455Ser
ENST00000308731.8:c.1892A>C MANE Select	ENSP00000308176.8:p.Tyr631Ser
ENST00000308731.7:c.1892A>C	ENSP00000308176.7:p.Tyr631Ser
ENST00000372880.5:c.1364A>C	ENSP00000361971.1:p.Tyr455Ser
ENST00000470069.1:n.257A>C
ENST00000618050.4:c.1891A>C	ENSP00000479125.1:n.1891A>C
ENST00000621635.4:c.1994A>C	ENSP00000483570.1:p.Tyr665Ser
NM_000061.2:c.1892A>C , LRG_128t1:c.1892A>C	NP_000052.1:p.Tyr631Ser
NM_001287344.1:c.1994A>C	NP_001274273.1:p.Tyr665Ser
NM_001287345.1:c.1364A>C	NP_001274274.1:p.Tyr455Ser
NM_000061.3:c.1892A>C MANE Select	NP_000052.1:p.Tyr631Ser
NM_001287344.2:c.1994A>C	NP_001274273.1:p.Tyr665Ser
NM_001287345.2:c.1364A>C	NP_001274274.1:p.Tyr455Ser