Canonical Allele Identifier: CA413919335
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 1339547
ClinVar RCV Id: RCV001824256
dbSNP Id: rs2147424169

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353310A>T , CM000685.2:g.101353310A>T GRCh38
NC_000023.10:g.100608298A>T , CM000685.1:g.100608298A>T GRCh37
NC_000023.9:g.100494954A>T NCBI36
NG_009616.1:g.37915T>A , LRG_128:g.37915T>A
NG_011734.1:g.660T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3309T>A
ENST00000488970.2:n.3948T>A
ENST00000695614.1:c.1792T>A ENSP00000512053.1:p.Tyr598Asn
ENST00000695615.1:c.1792T>A ENSP00000512054.1:p.Tyr598Asn
ENST00000695616.1:c.*1637T>A ENSP00000512055.1:n.*1637T>A
ENST00000695617.1:c.1789T>A ENSP00000512056.1:p.Tyr597Asn
ENST00000695618.1:c.*1541T>A ENSP00000512058.1:n.*1541T>A
ENST00000695619.1:c.*1502T>A ENSP00000512059.1:n.*1502T>A
ENST00000695620.1:c.*1718T>A ENSP00000512060.1:n.*1718T>A
ENST00000695621.1:c.*217T>A ENSP00000512061.1:n.*217T>A
ENST00000695622.1:c.1729T>A ENSP00000512062.1:p.Tyr577Asn
ENST00000695623.1:c.1786T>A ENSP00000512063.1:p.Tyr596Asn
ENST00000695624.1:n.1097T>A
ENST00000695625.1:c.1792T>A ENSP00000512064.1:p.Tyr598Asn
ENST00000695626.1:c.547T>A ENSP00000512065.1:n.547T>A
ENST00000695627.1:c.740T>A ENSP00000512066.1:n.740T>A
ENST00000695628.1:c.351T>A ENSP00000512067.1:n.351T>A
ENST00000695629.1:c.232T>A ENSP00000512068.1:p.Tyr78Asn
ENST00000695630.1:c.519T>A
ENST00000695631.1:c.115-62T>A
ENST00000703407.1:c.1264T>A ENSP00000512057.1:p.Tyr422Asn
ENST00000308731.8:c.1792T>A MANE Select ENSP00000308176.8:p.Tyr598Asn
ENST00000308731.7:c.1792T>A ENSP00000308176.7:p.Tyr598Asn
ENST00000372880.5:c.1264T>A ENSP00000361971.1:p.Tyr422Asn
ENST00000470069.1:n.157T>A
ENST00000618050.4:c.1791T>A ENSP00000479125.1:n.1791T>A
ENST00000621635.4:c.1894T>A ENSP00000483570.1:p.Tyr632Asn
NM_000061.2:c.1792T>A , LRG_128t1:c.1792T>A NP_000052.1:p.Tyr598Asn
NM_001287344.1:c.1894T>A NP_001274273.1:p.Tyr632Asn
NM_001287345.1:c.1264T>A NP_001274274.1:p.Tyr422Asn
NM_000061.3:c.1792T>A MANE Select NP_000052.1:p.Tyr598Asn
NM_001287344.2:c.1894T>A NP_001274273.1:p.Tyr632Asn
NM_001287345.2:c.1264T>A NP_001274274.1:p.Tyr422Asn