Canonical Allele Identifier: CA413922963

Gene: BTK

Linked Data

• ClinVar Variation Id: 530948
• ClinVar RCV Id: RCV000637052
• dbSNP Id: rs128621201
• MyVariant Identifiers: chrX:g.100611048G>C (hg19) ; chrX:g.101356060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356060G>C , CM000685.2:g.101356060G>C	GRCh38
NC_000023.10:g.100611048G>C , CM000685.1:g.100611048G>C	GRCh37
NC_000023.9:g.100497704G>C	NCBI36
NG_009616.1:g.35165C>G , LRG_128:g.35165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1718C>G
ENST00000488970.2:n.1716C>G
ENST00000695614.1:c.1558C>G	ENSP00000512053.1:p.Arg520Gly
ENST00000695615.1:c.1558C>G	ENSP00000512054.1:p.Arg520Gly
ENST00000695616.1:c.*1403C>G	ENSP00000512055.1:n.*1403C>G
ENST00000695617.1:c.1555C>G	ENSP00000512056.1:p.Arg519Gly
ENST00000695618.1:c.*1307C>G	ENSP00000512058.1:n.*1307C>G
ENST00000695619.1:c.*1268C>G	ENSP00000512059.1:n.*1268C>G
ENST00000695620.1:c.*1484C>G	ENSP00000512060.1:n.*1484C>G
ENST00000695621.1:c.1558C>G	ENSP00000512061.1:p.Arg520Gly
ENST00000695622.1:c.1495C>G	ENSP00000512062.1:p.Arg499Gly
ENST00000695623.1:c.1552C>G	ENSP00000512063.1:p.Arg518Gly
ENST00000695624.1:n.863C>G
ENST00000695625.1:c.1558C>G	ENSP00000512064.1:p.Arg520Gly
ENST00000695626.1:c.321+724C>G	ENSP00000512065.1:n.321+724C>G
ENST00000695627.1:c.571C>G	ENSP00000512066.1:p.Arg191Gly
ENST00000695628.1:c.190+1449C>G	ENSP00000512067.1:n.190+1449C>G
ENST00000695629.1:c.190+1449C>G	ENSP00000512068.1:n.190+1449C>G
ENST00000695630.1:c.358+724C>G
ENST00000695631.1:c.114+2250C>G
ENST00000695632.1:n.366+724C>G
ENST00000703407.1:c.1039-1366C>G	ENSP00000512057.1:n.1039-1366C>G
ENST00000308731.8:c.1558C>G MANE Select	ENSP00000308176.8:p.Arg520Gly
ENST00000308731.7:c.1558C>G	ENSP00000308176.7:p.Arg520Gly
ENST00000372880.5:c.1039-1366C>G	ENSP00000361971.1:n.1039-1366C>G
ENST00000478995.1:n.230C>G
ENST00000618050.4:c.1558C>G	ENSP00000479125.1:p.Arg520Gly
ENST00000621635.4:c.1660C>G	ENSP00000483570.1:p.Arg554Gly
NM_000061.2:c.1558C>G , LRG_128t1:c.1558C>G	NP_000052.1:p.Arg520Gly
NM_001287344.1:c.1660C>G	NP_001274273.1:p.Arg554Gly
NM_001287345.1:c.1039-1366C>G	NP_001274274.1:n.1039-1366C>G
NM_000061.3:c.1558C>G MANE Select	NP_000052.1:p.Arg520Gly
NM_001287344.2:c.1660C>G	NP_001274273.1:p.Arg554Gly
NM_001287345.2:c.1039-1366C>G	NP_001274274.1:n.1039-1366C>G