Canonical Allele Identifier: CA2822685215
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101349823T>C , CM000685.2:g.101349823T>C GRCh38
NC_000023.10:g.100604811T>C , CM000685.1:g.100604811T>C GRCh37
NC_000023.9:g.100491467T>C NCBI36
NG_009616.1:g.41402A>G , LRG_128:g.41402A>G
NG_011734.1:g.4147A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3559A>G
ENST00000488970.2:n.4198A>G
ENST00000695614.1:c.*62A>G ENSP00000512053.1:n.*62A>G
ENST00000695615.1:c.*62A>G ENSP00000512054.1:n.*62A>G
ENST00000695616.1:c.*1887A>G ENSP00000512055.1:n.*1887A>G
ENST00000695617.1:c.*62A>G ENSP00000512056.1:n.*62A>G
ENST00000695618.1:c.*1791A>G ENSP00000512058.1:n.*1791A>G
ENST00000695619.1:c.*1752A>G ENSP00000512059.1:n.*1752A>G
ENST00000695620.1:c.*1968A>G ENSP00000512060.1:n.*1968A>G
ENST00000695621.1:c.*467A>G ENSP00000512061.1:n.*467A>G
ENST00000695622.1:c.*62A>G ENSP00000512062.1:n.*62A>G
ENST00000695623.1:c.*62A>G ENSP00000512063.1:n.*62A>G
ENST00000695624.1:n.1347A>G
ENST00000695625.1:c.*62A>G ENSP00000512064.1:n.*62A>G
ENST00000695626.1:c.797A>G ENSP00000512065.1:n.797A>G
ENST00000695627.1:c.990A>G ENSP00000512066.1:n.990A>G
ENST00000695628.1:c.601A>G ENSP00000512067.1:n.601A>G
ENST00000695629.1:c.482A>G ENSP00000512068.1:n.482A>G
ENST00000703407.1:c.*62A>G ENSP00000512057.1:n.*62A>G
ENST00000308731.8:c.*62A>G MANE Select ENSP00000308176.8:n.*62A>G
ENST00000308731.7:c.*62A>G ENSP00000308176.7:n.*62A>G
ENST00000372880.5:c.*62A>G ENSP00000361971.1:n.*62A>G
ENST00000618050.4:c.2041A>G ENSP00000479125.1:n.2041A>G
ENST00000621635.4:c.*62A>G ENSP00000483570.1:n.*62A>G
NM_000061.2:c.*62A>G , LRG_128t1:c.*62A>G NP_000052.1:n.*62A>G
NM_001287344.1:c.*62A>G NP_001274273.1:n.*62A>G
NM_001287345.1:c.*62A>G NP_001274274.1:n.*62A>G
NM_000061.3:c.*62A>G MANE Select NP_000052.1:n.*62A>G
NM_001287344.2:c.*62A>G NP_001274273.1:n.*62A>G
NM_001287345.2:c.*62A>G NP_001274274.1:n.*62A>G