Canonical Allele Identifier: CA255853

Gene: BTK

Linked Data

• ClinVar Variation Id: 11394
• ClinVar RCV Id: RCV000012147 ; RCV000485427
• dbSNP Id: rs104894770
• MyVariant Identifiers: chrX:g.100608923C>G (hg19) ; chrX:g.101353935C>G (hg38)
• PubMed: PMID:10678660

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353935C>G , CM000685.2:g.101353935C>G	GRCh38
NC_000023.10:g.100608923C>G , CM000685.1:g.100608923C>G	GRCh37
NC_000023.9:g.100495579C>G	NCBI36
NG_009616.1:g.37290G>C , LRG_128:g.37290G>C
NG_011734.1:g.35G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3202G>C
ENST00000488970.2:n.3841G>C
ENST00000695614.1:c.1685G>C	ENSP00000512053.1:p.Arg562Pro
ENST00000695615.1:c.1685G>C	ENSP00000512054.1:p.Arg562Pro
ENST00000695616.1:c.*1530G>C	ENSP00000512055.1:n.*1530G>C
ENST00000695617.1:c.1682G>C	ENSP00000512056.1:p.Arg561Pro
ENST00000695618.1:c.*1434G>C	ENSP00000512058.1:n.*1434G>C
ENST00000695619.1:c.*1395G>C	ENSP00000512059.1:n.*1395G>C
ENST00000695620.1:c.*1611G>C	ENSP00000512060.1:n.*1611G>C
ENST00000695621.1:c.*110G>C	ENSP00000512061.1:n.*110G>C
ENST00000695622.1:c.1622G>C	ENSP00000512062.1:p.Arg541Pro
ENST00000695623.1:c.1679G>C	ENSP00000512063.1:p.Arg560Pro
ENST00000695624.1:n.990G>C
ENST00000695625.1:c.1685G>C	ENSP00000512064.1:p.Arg562Pro
ENST00000695626.1:c.440G>C	ENSP00000512065.1:n.440G>C
ENST00000695627.1:c.633G>C	ENSP00000512066.1:n.633G>C
ENST00000695628.1:c.244G>C	ENSP00000512067.1:n.244G>C
ENST00000695629.1:c.191-584G>C	ENSP00000512068.1:n.191-584G>C
ENST00000695630.1:c.412G>C
ENST00000695631.1:c.115-687G>C
ENST00000695632.1:n.485G>C
ENST00000703407.1:c.1157G>C	ENSP00000512057.1:p.Arg386Pro
ENST00000308731.8:c.1685G>C MANE Select	ENSP00000308176.8:p.Arg562Pro
ENST00000308731.7:c.1685G>C	ENSP00000308176.7:p.Arg562Pro
ENST00000372880.5:c.1157G>C	ENSP00000361971.1:p.Arg386Pro
ENST00000470069.1:n.50G>C
ENST00000488970.1:n.287G>C
ENST00000618050.4:c.1685G>C	ENSP00000479125.1:p.Arg562Pro
ENST00000621635.4:c.1787G>C	ENSP00000483570.1:p.Arg596Pro
NM_000061.2:c.1685G>C , LRG_128t1:c.1685G>C	NP_000052.1:p.Arg562Pro
NM_001287344.1:c.1787G>C	NP_001274273.1:p.Arg596Pro
NM_001287345.1:c.1157G>C	NP_001274274.1:p.Arg386Pro
NM_000061.3:c.1685G>C MANE Select	NP_000052.1:p.Arg562Pro
NM_001287344.2:c.1787G>C	NP_001274273.1:p.Arg596Pro
NM_001287345.2:c.1157G>C	NP_001274274.1:p.Arg386Pro