Canonical Allele Identifier: CA413919416

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608307T>C (hg19) ; chrX:g.101353319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353319T>C , CM000685.2:g.101353319T>C	GRCh38
NC_000023.10:g.100608307T>C , CM000685.1:g.100608307T>C	GRCh37
NC_000023.9:g.100494963T>C	NCBI36
NG_009616.1:g.37906A>G , LRG_128:g.37906A>G
NG_011734.1:g.651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3300A>G
ENST00000488970.2:n.3939A>G
ENST00000695614.1:c.1783A>G	ENSP00000512053.1:p.Lys595Glu
ENST00000695615.1:c.1783A>G	ENSP00000512054.1:p.Lys595Glu
ENST00000695616.1:c.*1628A>G	ENSP00000512055.1:n.*1628A>G
ENST00000695617.1:c.1780A>G	ENSP00000512056.1:p.Lys594Glu
ENST00000695618.1:c.*1532A>G	ENSP00000512058.1:n.*1532A>G
ENST00000695619.1:c.*1493A>G	ENSP00000512059.1:n.*1493A>G
ENST00000695620.1:c.*1709A>G	ENSP00000512060.1:n.*1709A>G
ENST00000695621.1:c.*208A>G	ENSP00000512061.1:n.*208A>G
ENST00000695622.1:c.1720A>G	ENSP00000512062.1:p.Lys574Glu
ENST00000695623.1:c.1777A>G	ENSP00000512063.1:p.Lys593Glu
ENST00000695624.1:n.1088A>G
ENST00000695625.1:c.1783A>G	ENSP00000512064.1:p.Lys595Glu
ENST00000695626.1:c.538A>G	ENSP00000512065.1:n.538A>G
ENST00000695627.1:c.731A>G	ENSP00000512066.1:n.731A>G
ENST00000695628.1:c.342A>G	ENSP00000512067.1:n.342A>G
ENST00000695629.1:c.223A>G	ENSP00000512068.1:p.Lys75Glu
ENST00000695630.1:c.510A>G
ENST00000695631.1:c.115-71A>G
ENST00000703407.1:c.1255A>G	ENSP00000512057.1:p.Lys419Glu
ENST00000308731.8:c.1783A>G MANE Select	ENSP00000308176.8:p.Lys595Glu
ENST00000308731.7:c.1783A>G	ENSP00000308176.7:p.Lys595Glu
ENST00000372880.5:c.1255A>G	ENSP00000361971.1:p.Lys419Glu
ENST00000470069.1:n.148A>G
ENST00000488970.1:n.385A>G
ENST00000618050.4:c.1782A>G	ENSP00000479125.1:n.1782A>G
ENST00000621635.4:c.1885A>G	ENSP00000483570.1:p.Lys629Glu
NM_000061.2:c.1783A>G , LRG_128t1:c.1783A>G	NP_000052.1:p.Lys595Glu
NM_001287344.1:c.1885A>G	NP_001274273.1:p.Lys629Glu
NM_001287345.1:c.1255A>G	NP_001274274.1:p.Lys419Glu
NM_000061.3:c.1783A>G MANE Select	NP_000052.1:p.Lys595Glu
NM_001287344.2:c.1885A>G	NP_001274273.1:p.Lys629Glu
NM_001287345.2:c.1255A>G	NP_001274274.1:p.Lys419Glu