Canonical Allele Identifier: CA255831

Gene: BTK

Linked Data

• ClinVar Variation Id: 11378
• ClinVar RCV Id: RCV000012131 ; RCV000637056 ; RCV002482855
• dbSNP Id: rs128621202
• COSMIC: COSM1464402
• MyVariant Identifiers: chrX:g.100611047C>T (hg19) ; chrX:g.101356059C>T (hg38)
• PubMed: PMID:7849721 ; PMID:7880320

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356059C>T , CM000685.2:g.101356059C>T	GRCh38
NC_000023.10:g.100611047C>T , CM000685.1:g.100611047C>T	GRCh37
NC_000023.9:g.100497703C>T	NCBI36
NG_009616.1:g.35166G>A , LRG_128:g.35166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1719G>A
ENST00000488970.2:n.1717G>A
ENST00000695614.1:c.1559G>A	ENSP00000512053.1:p.Arg520Gln
ENST00000695615.1:c.1559G>A	ENSP00000512054.1:p.Arg520Gln
ENST00000695616.1:c.*1404G>A	ENSP00000512055.1:n.*1404G>A
ENST00000695617.1:c.1556G>A	ENSP00000512056.1:p.Arg519Gln
ENST00000695618.1:c.*1308G>A	ENSP00000512058.1:n.*1308G>A
ENST00000695619.1:c.*1269G>A	ENSP00000512059.1:n.*1269G>A
ENST00000695620.1:c.*1485G>A	ENSP00000512060.1:n.*1485G>A
ENST00000695621.1:c.1559G>A	ENSP00000512061.1:p.Arg520Gln
ENST00000695622.1:c.1496G>A	ENSP00000512062.1:p.Arg499Gln
ENST00000695623.1:c.1553G>A	ENSP00000512063.1:p.Arg518Gln
ENST00000695624.1:n.864G>A
ENST00000695625.1:c.1559G>A	ENSP00000512064.1:p.Arg520Gln
ENST00000695626.1:c.321+725G>A	ENSP00000512065.1:n.321+725G>A
ENST00000695627.1:c.572G>A	ENSP00000512066.1:p.Arg191Gln
ENST00000695628.1:c.190+1450G>A	ENSP00000512067.1:n.190+1450G>A
ENST00000695629.1:c.190+1450G>A	ENSP00000512068.1:n.190+1450G>A
ENST00000695630.1:c.358+725G>A
ENST00000695631.1:c.114+2251G>A
ENST00000695632.1:n.366+725G>A
ENST00000703407.1:c.1039-1365G>A	ENSP00000512057.1:n.1039-1365G>A
ENST00000308731.8:c.1559G>A MANE Select	ENSP00000308176.8:p.Arg520Gln
ENST00000308731.7:c.1559G>A	ENSP00000308176.7:p.Arg520Gln
ENST00000372880.5:c.1039-1365G>A	ENSP00000361971.1:n.1039-1365G>A
ENST00000478995.1:n.231G>A
ENST00000618050.4:c.1559G>A	ENSP00000479125.1:p.Arg520Gln
ENST00000621635.4:c.1661G>A	ENSP00000483570.1:p.Arg554Gln
NM_000061.2:c.1559G>A , LRG_128t1:c.1559G>A	NP_000052.1:p.Arg520Gln
NM_001287344.1:c.1661G>A	NP_001274273.1:p.Arg554Gln
NM_001287345.1:c.1039-1365G>A	NP_001274274.1:n.1039-1365G>A
NM_000061.3:c.1559G>A MANE Select	NP_000052.1:p.Arg520Gln
NM_001287344.2:c.1661G>A	NP_001274273.1:p.Arg554Gln
NM_001287345.2:c.1039-1365G>A	NP_001274274.1:n.1039-1365G>A