Canonical Allele Identifier: CA413919253

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608291C>G (hg19) ; chrX:g.101353303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353303C>G , CM000685.2:g.101353303C>G	GRCh38
NC_000023.10:g.100608291C>G , CM000685.1:g.100608291C>G	GRCh37
NC_000023.9:g.100494947C>G	NCBI36
NG_009616.1:g.37922G>C , LRG_128:g.37922G>C
NG_011734.1:g.667G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3316G>C
ENST00000488970.2:n.3955G>C
ENST00000695614.1:c.1799G>C	ENSP00000512053.1:p.Arg600Thr
ENST00000695615.1:c.1799G>C	ENSP00000512054.1:p.Arg600Thr
ENST00000695616.1:c.*1644G>C	ENSP00000512055.1:n.*1644G>C
ENST00000695617.1:c.1796G>C	ENSP00000512056.1:p.Arg599Thr
ENST00000695618.1:c.*1548G>C	ENSP00000512058.1:n.*1548G>C
ENST00000695619.1:c.*1509G>C	ENSP00000512059.1:n.*1509G>C
ENST00000695620.1:c.*1725G>C	ENSP00000512060.1:n.*1725G>C
ENST00000695621.1:c.*224G>C	ENSP00000512061.1:n.*224G>C
ENST00000695622.1:c.1736G>C	ENSP00000512062.1:p.Arg579Thr
ENST00000695623.1:c.1793G>C	ENSP00000512063.1:p.Arg598Thr
ENST00000695624.1:n.1104G>C
ENST00000695625.1:c.1799G>C	ENSP00000512064.1:p.Arg600Thr
ENST00000695626.1:c.554G>C	ENSP00000512065.1:n.554G>C
ENST00000695627.1:c.747G>C	ENSP00000512066.1:n.747G>C
ENST00000695628.1:c.358G>C	ENSP00000512067.1:n.358G>C
ENST00000695629.1:c.239G>C	ENSP00000512068.1:p.Arg80Thr
ENST00000695630.1:c.526G>C
ENST00000695631.1:c.115-55G>C
ENST00000703407.1:c.1271G>C	ENSP00000512057.1:p.Arg424Thr
ENST00000308731.8:c.1799G>C MANE Select	ENSP00000308176.8:p.Arg600Thr
ENST00000308731.7:c.1799G>C	ENSP00000308176.7:p.Arg600Thr
ENST00000372880.5:c.1271G>C	ENSP00000361971.1:p.Arg424Thr
ENST00000470069.1:n.164G>C
ENST00000618050.4:c.1798G>C	ENSP00000479125.1:n.1798G>C
ENST00000621635.4:c.1901G>C	ENSP00000483570.1:p.Arg634Thr
NM_000061.2:c.1799G>C , LRG_128t1:c.1799G>C	NP_000052.1:p.Arg600Thr
NM_001287344.1:c.1901G>C	NP_001274273.1:p.Arg634Thr
NM_001287345.1:c.1271G>C	NP_001274274.1:p.Arg424Thr
NM_000061.3:c.1799G>C MANE Select	NP_000052.1:p.Arg600Thr
NM_001287344.2:c.1901G>C	NP_001274273.1:p.Arg634Thr
NM_001287345.2:c.1271G>C	NP_001274274.1:p.Arg424Thr