Canonical Allele Identifier: CA255837
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 11385
ClinVar RCV Id: RCV000012138
dbSNP Id: rs128621206

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353336T>C , CM000685.2:g.101353336T>C GRCh38
NC_000023.10:g.100608324T>C , CM000685.1:g.100608324T>C GRCh37
NC_000023.9:g.100494980T>C NCBI36
NG_009616.1:g.37889A>G , LRG_128:g.37889A>G
NG_011734.1:g.634A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3283A>G
ENST00000488970.2:n.3922A>G
ENST00000695614.1:c.1766A>G ENSP00000512053.1:p.Glu589Gly
ENST00000695615.1:c.1766A>G ENSP00000512054.1:p.Glu589Gly
ENST00000695616.1:c.*1611A>G ENSP00000512055.1:n.*1611A>G
ENST00000695617.1:c.1763A>G ENSP00000512056.1:p.Glu588Gly
ENST00000695618.1:c.*1515A>G ENSP00000512058.1:n.*1515A>G
ENST00000695619.1:c.*1476A>G ENSP00000512059.1:n.*1476A>G
ENST00000695620.1:c.*1692A>G ENSP00000512060.1:n.*1692A>G
ENST00000695621.1:c.*191A>G ENSP00000512061.1:n.*191A>G
ENST00000695622.1:c.1703A>G ENSP00000512062.1:p.Glu568Gly
ENST00000695623.1:c.1760A>G ENSP00000512063.1:p.Glu587Gly
ENST00000695624.1:n.1071A>G
ENST00000695625.1:c.1766A>G ENSP00000512064.1:p.Glu589Gly
ENST00000695626.1:c.521A>G ENSP00000512065.1:n.521A>G
ENST00000695627.1:c.714A>G ENSP00000512066.1:n.714A>G
ENST00000695628.1:c.325A>G ENSP00000512067.1:n.325A>G
ENST00000695629.1:c.206A>G ENSP00000512068.1:p.Glu69Gly
ENST00000695630.1:c.493A>G
ENST00000695631.1:c.115-88A>G
ENST00000703407.1:c.1238A>G ENSP00000512057.1:p.Glu413Gly
ENST00000308731.8:c.1766A>G MANE Select ENSP00000308176.8:p.Glu589Gly
ENST00000308731.7:c.1766A>G ENSP00000308176.7:p.Glu589Gly
ENST00000372880.5:c.1238A>G ENSP00000361971.1:p.Glu413Gly
ENST00000470069.1:n.131A>G
ENST00000488970.1:n.368A>G
ENST00000618050.4:c.1765A>G ENSP00000479125.1:n.1765A>G
ENST00000621635.4:c.1868A>G ENSP00000483570.1:p.Glu623Gly
NM_000061.2:c.1766A>G , LRG_128t1:c.1766A>G NP_000052.1:p.Glu589Gly
NM_001287344.1:c.1868A>G NP_001274273.1:p.Glu623Gly
NM_001287345.1:c.1238A>G NP_001274274.1:p.Glu413Gly
NM_000061.3:c.1766A>G MANE Select NP_000052.1:p.Glu589Gly
NM_001287344.2:c.1868A>G NP_001274273.1:p.Glu623Gly
NM_001287345.2:c.1238A>G NP_001274274.1:p.Glu413Gly