Canonical Allele Identifier: CA413919056
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 2801828
ClinVar RCV Id: RCV003624842

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353280C>T , CM000685.2:g.101353280C>T GRCh38
NC_000023.10:g.100608268C>T , CM000685.1:g.100608268C>T GRCh37
NC_000023.9:g.100494924C>T NCBI36
NG_009616.1:g.37945G>A , LRG_128:g.37945G>A
NG_011734.1:g.690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3339G>A
ENST00000488970.2:n.3978G>A
ENST00000695614.1:c.1822G>A ENSP00000512053.1:p.Glu608Lys
ENST00000695615.1:c.1822G>A ENSP00000512054.1:p.Glu608Lys
ENST00000695616.1:c.*1667G>A ENSP00000512055.1:n.*1667G>A
ENST00000695617.1:c.1819G>A ENSP00000512056.1:p.Glu607Lys
ENST00000695618.1:c.*1571G>A ENSP00000512058.1:n.*1571G>A
ENST00000695619.1:c.*1532G>A ENSP00000512059.1:n.*1532G>A
ENST00000695620.1:c.*1748G>A ENSP00000512060.1:n.*1748G>A
ENST00000695621.1:c.*247G>A ENSP00000512061.1:n.*247G>A
ENST00000695622.1:c.1759G>A ENSP00000512062.1:p.Glu587Lys
ENST00000695623.1:c.1816G>A ENSP00000512063.1:p.Glu606Lys
ENST00000695624.1:n.1127G>A
ENST00000695625.1:c.1822G>A ENSP00000512064.1:p.Glu608Lys
ENST00000695626.1:c.577G>A ENSP00000512065.1:n.577G>A
ENST00000695627.1:c.770G>A ENSP00000512066.1:n.770G>A
ENST00000695628.1:c.381G>A ENSP00000512067.1:n.381G>A
ENST00000695629.1:c.262G>A ENSP00000512068.1:p.Glu88Lys
ENST00000695630.1:c.549G>A
ENST00000695631.1:c.115-32G>A
ENST00000703407.1:c.1294G>A ENSP00000512057.1:p.Glu432Lys
ENST00000308731.8:c.1822G>A MANE Select ENSP00000308176.8:p.Glu608Lys
ENST00000308731.7:c.1822G>A ENSP00000308176.7:p.Glu608Lys
ENST00000372880.5:c.1294G>A ENSP00000361971.1:p.Glu432Lys
ENST00000470069.1:n.187G>A
ENST00000618050.4:c.1821G>A ENSP00000479125.1:n.1821G>A
ENST00000621635.4:c.1924G>A ENSP00000483570.1:p.Glu642Lys
NM_000061.2:c.1822G>A , LRG_128t1:c.1822G>A NP_000052.1:p.Glu608Lys
NM_001287344.1:c.1924G>A NP_001274273.1:p.Glu642Lys
NM_001287345.1:c.1294G>A NP_001274274.1:p.Glu432Lys
NM_000061.3:c.1822G>A MANE Select NP_000052.1:p.Glu608Lys
NM_001287344.2:c.1924G>A NP_001274273.1:p.Glu642Lys
NM_001287345.2:c.1294G>A NP_001274274.1:p.Glu432Lys