Canonical Allele Identifier: CA413918967

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608260A>C (hg19) ; chrX:g.101353272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353272A>C , CM000685.2:g.101353272A>C	GRCh38
NC_000023.10:g.100608260A>C , CM000685.1:g.100608260A>C	GRCh37
NC_000023.9:g.100494916A>C	NCBI36
NG_009616.1:g.37953T>G , LRG_128:g.37953T>G
NG_011734.1:g.698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3347T>G
ENST00000488970.2:n.3986T>G
ENST00000695614.1:c.1830T>G	ENSP00000512053.1:p.Ile610Met
ENST00000695615.1:c.1830T>G	ENSP00000512054.1:p.Ile610Met
ENST00000695616.1:c.*1675T>G	ENSP00000512055.1:n.*1675T>G
ENST00000695617.1:c.1827T>G	ENSP00000512056.1:p.Ile609Met
ENST00000695618.1:c.*1579T>G	ENSP00000512058.1:n.*1579T>G
ENST00000695619.1:c.*1540T>G	ENSP00000512059.1:n.*1540T>G
ENST00000695620.1:c.*1756T>G	ENSP00000512060.1:n.*1756T>G
ENST00000695621.1:c.*255T>G	ENSP00000512061.1:n.*255T>G
ENST00000695622.1:c.1767T>G	ENSP00000512062.1:p.Ile589Met
ENST00000695623.1:c.1824T>G	ENSP00000512063.1:p.Ile608Met
ENST00000695624.1:n.1135T>G
ENST00000695625.1:c.1830T>G	ENSP00000512064.1:p.Ile610Met
ENST00000695626.1:c.585T>G	ENSP00000512065.1:n.585T>G
ENST00000695627.1:c.778T>G	ENSP00000512066.1:n.778T>G
ENST00000695628.1:c.389T>G	ENSP00000512067.1:n.389T>G
ENST00000695629.1:c.270T>G	ENSP00000512068.1:p.Ile90Met
ENST00000695630.1:c.557T>G
ENST00000695631.1:c.115-24T>G
ENST00000703407.1:c.1302T>G	ENSP00000512057.1:p.Ile434Met
ENST00000308731.8:c.1830T>G MANE Select	ENSP00000308176.8:p.Ile610Met
ENST00000308731.7:c.1830T>G	ENSP00000308176.7:p.Ile610Met
ENST00000372880.5:c.1302T>G	ENSP00000361971.1:p.Ile434Met
ENST00000470069.1:n.195T>G
ENST00000618050.4:c.1829T>G	ENSP00000479125.1:n.1829T>G
ENST00000621635.4:c.1932T>G	ENSP00000483570.1:p.Ile644Met
NM_000061.2:c.1830T>G , LRG_128t1:c.1830T>G	NP_000052.1:p.Ile610Met
NM_001287344.1:c.1932T>G	NP_001274273.1:p.Ile644Met
NM_001287345.1:c.1302T>G	NP_001274274.1:p.Ile434Met
NM_000061.3:c.1830T>G MANE Select	NP_000052.1:p.Ile610Met
NM_001287344.2:c.1932T>G	NP_001274273.1:p.Ile644Met
NM_001287345.2:c.1302T>G	NP_001274274.1:p.Ile434Met