Canonical Allele Identifier: CA413918575

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608208T>G (hg19) ; chrX:g.101353220T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353220T>G , CM000685.2:g.101353220T>G	GRCh38
NC_000023.10:g.100608208T>G , CM000685.1:g.100608208T>G	GRCh37
NC_000023.9:g.100494864T>G	NCBI36
NG_009616.1:g.38005A>C , LRG_128:g.38005A>C
NG_011734.1:g.750A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3399A>C
ENST00000488970.2:n.4038A>C
ENST00000695614.1:c.1882A>C	ENSP00000512053.1:p.Thr628Pro
ENST00000695615.1:c.1882A>C	ENSP00000512054.1:p.Thr628Pro
ENST00000695616.1:c.*1727A>C	ENSP00000512055.1:n.*1727A>C
ENST00000695617.1:c.1879A>C	ENSP00000512056.1:p.Thr627Pro
ENST00000695618.1:c.*1631A>C	ENSP00000512058.1:n.*1631A>C
ENST00000695619.1:c.*1592A>C	ENSP00000512059.1:n.*1592A>C
ENST00000695620.1:c.*1808A>C	ENSP00000512060.1:n.*1808A>C
ENST00000695621.1:c.*307A>C	ENSP00000512061.1:n.*307A>C
ENST00000695622.1:c.1819A>C	ENSP00000512062.1:p.Thr607Pro
ENST00000695623.1:c.1876A>C	ENSP00000512063.1:p.Thr626Pro
ENST00000695624.1:n.1187A>C
ENST00000695625.1:c.1875+7A>C	ENSP00000512064.1:n.1875+7A>C
ENST00000695626.1:c.637A>C	ENSP00000512065.1:n.637A>C
ENST00000695627.1:c.830A>C	ENSP00000512066.1:n.830A>C
ENST00000695628.1:c.441A>C	ENSP00000512067.1:n.441A>C
ENST00000695629.1:c.322A>C	ENSP00000512068.1:p.Thr108Pro
ENST00000695630.1:c.609A>C
ENST00000695631.1:c.143A>C
ENST00000703407.1:c.1354A>C	ENSP00000512057.1:p.Thr452Pro
ENST00000308731.8:c.1882A>C MANE Select	ENSP00000308176.8:p.Thr628Pro
ENST00000308731.7:c.1882A>C	ENSP00000308176.7:p.Thr628Pro
ENST00000372880.5:c.1354A>C	ENSP00000361971.1:p.Thr452Pro
ENST00000470069.1:n.247A>C
ENST00000618050.4:c.1881A>C	ENSP00000479125.1:n.1881A>C
ENST00000621635.4:c.1984A>C	ENSP00000483570.1:p.Thr662Pro
NM_000061.2:c.1882A>C , LRG_128t1:c.1882A>C	NP_000052.1:p.Thr628Pro
NM_001287344.1:c.1984A>C	NP_001274273.1:p.Thr662Pro
NM_001287345.1:c.1354A>C	NP_001274274.1:p.Thr452Pro
NM_000061.3:c.1882A>C MANE Select	NP_000052.1:p.Thr628Pro
NM_001287344.2:c.1984A>C	NP_001274273.1:p.Thr662Pro
NM_001287345.2:c.1354A>C	NP_001274274.1:p.Thr452Pro