Canonical Allele Identifier: CA517529775

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608320A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353332A>G , CM000685.2:g.101353332A>G	GRCh38
NC_000023.10:g.100608320A>G , CM000685.1:g.100608320A>G	GRCh37
NC_000023.9:g.100494976A>G	NCBI36
NG_009616.1:g.37893T>C , LRG_128:g.37893T>C
NG_011734.1:g.638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3287T>C
ENST00000488970.2:n.3926T>C
ENST00000695614.1:c.1770T>C	ENSP00000512053.1:p.Ile590=
ENST00000695615.1:c.1770T>C	ENSP00000512054.1:p.Ile590=
ENST00000695616.1:c.*1615T>C	ENSP00000512055.1:n.*1615T>C
ENST00000695617.1:c.1767T>C	ENSP00000512056.1:p.Ile589=
ENST00000695618.1:c.*1519T>C	ENSP00000512058.1:n.*1519T>C
ENST00000695619.1:c.*1480T>C	ENSP00000512059.1:n.*1480T>C
ENST00000695620.1:c.*1696T>C	ENSP00000512060.1:n.*1696T>C
ENST00000695621.1:c.*195T>C	ENSP00000512061.1:n.*195T>C
ENST00000695622.1:c.1707T>C	ENSP00000512062.1:p.Ile569=
ENST00000695623.1:c.1764T>C	ENSP00000512063.1:p.Ile588=
ENST00000695624.1:n.1075T>C
ENST00000695625.1:c.1770T>C	ENSP00000512064.1:p.Ile590=
ENST00000695626.1:c.525T>C	ENSP00000512065.1:n.525T>C
ENST00000695627.1:c.718T>C	ENSP00000512066.1:n.718T>C
ENST00000695628.1:c.329T>C	ENSP00000512067.1:n.329T>C
ENST00000695629.1:c.210T>C	ENSP00000512068.1:p.Ile70=
ENST00000695630.1:c.497T>C
ENST00000695631.1:c.115-84T>C
ENST00000703407.1:c.1242T>C	ENSP00000512057.1:p.Ile414=
ENST00000308731.8:c.1770T>C MANE Select	ENSP00000308176.8:p.Ile590=
ENST00000308731.7:c.1770T>C	ENSP00000308176.7:p.Ile590=
ENST00000372880.5:c.1242T>C	ENSP00000361971.1:p.Ile414=
ENST00000470069.1:n.135T>C
ENST00000488970.1:n.372T>C
ENST00000618050.4:c.1769T>C	ENSP00000479125.1:n.1769T>C
ENST00000621635.4:c.1872T>C	ENSP00000483570.1:p.Ile624=
NM_000061.2:c.1770T>C , LRG_128t1:c.1770T>C	NP_000052.1:p.Ile590=
NM_001287344.1:c.1872T>C	NP_001274273.1:p.Ile624=
NM_001287345.1:c.1242T>C	NP_001274274.1:p.Ile414=
NM_000061.3:c.1770T>C MANE Select	NP_000052.1:p.Ile590=
NM_001287344.2:c.1872T>C	NP_001274273.1:p.Ile624=
NM_001287345.2:c.1242T>C	NP_001274274.1:p.Ile414=