Canonical Allele Identifier: CA413921480

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608957A>C (hg19) ; chrX:g.101353969A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353969A>C , CM000685.2:g.101353969A>C	GRCh38
NC_000023.10:g.100608957A>C , CM000685.1:g.100608957A>C	GRCh37
NC_000023.9:g.100495613A>C	NCBI36
NG_009616.1:g.37256T>G , LRG_128:g.37256T>G
NG_011734.1:g.1T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3168T>G
ENST00000488970.2:n.3807T>G
ENST00000695614.1:c.1651T>G	ENSP00000512053.1:p.Tyr551Asp
ENST00000695615.1:c.1651T>G	ENSP00000512054.1:p.Tyr551Asp
ENST00000695616.1:c.*1496T>G	ENSP00000512055.1:n.*1496T>G
ENST00000695617.1:c.1648T>G	ENSP00000512056.1:p.Tyr550Asp
ENST00000695618.1:c.*1400T>G	ENSP00000512058.1:n.*1400T>G
ENST00000695619.1:c.*1361T>G	ENSP00000512059.1:n.*1361T>G
ENST00000695620.1:c.*1577T>G	ENSP00000512060.1:n.*1577T>G
ENST00000695621.1:c.*76T>G	ENSP00000512061.1:n.*76T>G
ENST00000695622.1:c.1588T>G	ENSP00000512062.1:p.Tyr530Asp
ENST00000695623.1:c.1645T>G	ENSP00000512063.1:p.Tyr549Asp
ENST00000695624.1:n.956T>G
ENST00000695625.1:c.1651T>G	ENSP00000512064.1:p.Tyr551Asp
ENST00000695626.1:c.406T>G	ENSP00000512065.1:n.406T>G
ENST00000695627.1:c.599T>G	ENSP00000512066.1:n.599T>G
ENST00000695628.1:c.210T>G	ENSP00000512067.1:p.Asn70Lys
ENST00000695629.1:c.191-618T>G	ENSP00000512068.1:n.191-618T>G
ENST00000695630.1:c.378T>G
ENST00000695631.1:c.115-721T>G
ENST00000695632.1:n.451T>G
ENST00000703407.1:c.1123T>G	ENSP00000512057.1:p.Tyr375Asp
ENST00000308731.8:c.1651T>G MANE Select	ENSP00000308176.8:p.Tyr551Asp
ENST00000308731.7:c.1651T>G	ENSP00000308176.7:p.Tyr551Asp
ENST00000372880.5:c.1123T>G	ENSP00000361971.1:p.Tyr375Asp
ENST00000470069.1:n.16T>G
ENST00000488970.1:n.253T>G
ENST00000618050.4:c.1651T>G	ENSP00000479125.1:p.Tyr551Asp
ENST00000621635.4:c.1753T>G	ENSP00000483570.1:p.Tyr585Asp
NM_000061.2:c.1651T>G , LRG_128t1:c.1651T>G	NP_000052.1:p.Tyr551Asp
NM_001287344.1:c.1753T>G	NP_001274273.1:p.Tyr585Asp
NM_001287345.1:c.1123T>G	NP_001274274.1:p.Tyr375Asp
NM_000061.3:c.1651T>G MANE Select	NP_000052.1:p.Tyr551Asp
NM_001287344.2:c.1753T>G	NP_001274273.1:p.Tyr585Asp
NM_001287345.2:c.1123T>G	NP_001274274.1:p.Tyr375Asp