Canonical Allele Identifier: CA413919441
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 439452
dbSNP Id: rs1555977339

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353322C>T , CM000685.2:g.101353322C>T GRCh38
NC_000023.10:g.100608310C>T , CM000685.1:g.100608310C>T GRCh37
NC_000023.9:g.100494966C>T NCBI36
NG_009616.1:g.37903G>A , LRG_128:g.37903G>A
NG_011734.1:g.648G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3297G>A
ENST00000488970.2:n.3936G>A
ENST00000695614.1:c.1780G>A ENSP00000512053.1:p.Gly594Arg
ENST00000695615.1:c.1780G>A ENSP00000512054.1:p.Gly594Arg
ENST00000695616.1:c.*1625G>A ENSP00000512055.1:n.*1625G>A
ENST00000695617.1:c.1777G>A ENSP00000512056.1:p.Gly593Arg
ENST00000695618.1:c.*1529G>A ENSP00000512058.1:n.*1529G>A
ENST00000695619.1:c.*1490G>A ENSP00000512059.1:n.*1490G>A
ENST00000695620.1:c.*1706G>A ENSP00000512060.1:n.*1706G>A
ENST00000695621.1:c.*205G>A ENSP00000512061.1:n.*205G>A
ENST00000695622.1:c.1717G>A ENSP00000512062.1:p.Gly573Arg
ENST00000695623.1:c.1774G>A ENSP00000512063.1:p.Gly592Arg
ENST00000695624.1:n.1085G>A
ENST00000695625.1:c.1780G>A ENSP00000512064.1:p.Gly594Arg
ENST00000695626.1:c.535G>A ENSP00000512065.1:n.535G>A
ENST00000695627.1:c.728G>A ENSP00000512066.1:n.728G>A
ENST00000695628.1:c.339G>A ENSP00000512067.1:n.339G>A
ENST00000695629.1:c.220G>A ENSP00000512068.1:p.Gly74Arg
ENST00000695630.1:c.507G>A
ENST00000695631.1:c.115-74G>A
ENST00000703407.1:c.1252G>A ENSP00000512057.1:p.Gly418Arg
ENST00000308731.8:c.1780G>A MANE Select ENSP00000308176.8:p.Gly594Arg
ENST00000308731.7:c.1780G>A ENSP00000308176.7:p.Gly594Arg
ENST00000372880.5:c.1252G>A ENSP00000361971.1:p.Gly418Arg
ENST00000470069.1:n.145G>A
ENST00000488970.1:n.382G>A
ENST00000618050.4:c.1779G>A ENSP00000479125.1:n.1779G>A
ENST00000621635.4:c.1882G>A ENSP00000483570.1:p.Gly628Arg
NM_000061.2:c.1780G>A , LRG_128t1:c.1780G>A NP_000052.1:p.Gly594Arg
NM_001287344.1:c.1882G>A NP_001274273.1:p.Gly628Arg
NM_001287345.1:c.1252G>A NP_001274274.1:p.Gly418Arg
NM_000061.3:c.1780G>A MANE Select NP_000052.1:p.Gly594Arg
NM_001287344.2:c.1882G>A NP_001274273.1:p.Gly628Arg
NM_001287345.2:c.1252G>A NP_001274274.1:p.Gly418Arg