Canonical Allele Identifier: CA413918775

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608234G>A (hg19) ; chrX:g.101353246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353246G>A , CM000685.2:g.101353246G>A	GRCh38
NC_000023.10:g.100608234G>A , CM000685.1:g.100608234G>A	GRCh37
NC_000023.9:g.100494890G>A	NCBI36
NG_009616.1:g.37979C>T , LRG_128:g.37979C>T
NG_011734.1:g.724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3373C>T
ENST00000488970.2:n.4012C>T
ENST00000695614.1:c.1856C>T	ENSP00000512053.1:p.Pro619Leu
ENST00000695615.1:c.1856C>T	ENSP00000512054.1:p.Pro619Leu
ENST00000695616.1:c.*1701C>T	ENSP00000512055.1:n.*1701C>T
ENST00000695617.1:c.1853C>T	ENSP00000512056.1:p.Pro618Leu
ENST00000695618.1:c.*1605C>T	ENSP00000512058.1:n.*1605C>T
ENST00000695619.1:c.*1566C>T	ENSP00000512059.1:n.*1566C>T
ENST00000695620.1:c.*1782C>T	ENSP00000512060.1:n.*1782C>T
ENST00000695621.1:c.*281C>T	ENSP00000512061.1:n.*281C>T
ENST00000695622.1:c.1793C>T	ENSP00000512062.1:p.Pro598Leu
ENST00000695623.1:c.1850C>T	ENSP00000512063.1:p.Pro617Leu
ENST00000695624.1:n.1161C>T
ENST00000695625.1:c.1856C>T	ENSP00000512064.1:p.Pro619Leu
ENST00000695626.1:c.611C>T	ENSP00000512065.1:n.611C>T
ENST00000695627.1:c.804C>T	ENSP00000512066.1:n.804C>T
ENST00000695628.1:c.415C>T	ENSP00000512067.1:n.415C>T
ENST00000695629.1:c.296C>T	ENSP00000512068.1:p.Pro99Leu
ENST00000695630.1:c.583C>T
ENST00000695631.1:c.117C>T
ENST00000703407.1:c.1328C>T	ENSP00000512057.1:p.Pro443Leu
ENST00000308731.8:c.1856C>T MANE Select	ENSP00000308176.8:p.Pro619Leu
ENST00000308731.7:c.1856C>T	ENSP00000308176.7:p.Pro619Leu
ENST00000372880.5:c.1328C>T	ENSP00000361971.1:p.Pro443Leu
ENST00000470069.1:n.221C>T
ENST00000618050.4:c.1855C>T	ENSP00000479125.1:n.1855C>T
ENST00000621635.4:c.1958C>T	ENSP00000483570.1:p.Pro653Leu
NM_000061.2:c.1856C>T , LRG_128t1:c.1856C>T	NP_000052.1:p.Pro619Leu
NM_001287344.1:c.1958C>T	NP_001274273.1:p.Pro653Leu
NM_001287345.1:c.1328C>T	NP_001274274.1:p.Pro443Leu
NM_000061.3:c.1856C>T MANE Select	NP_000052.1:p.Pro619Leu
NM_001287344.2:c.1958C>T	NP_001274273.1:p.Pro653Leu
NM_001287345.2:c.1328C>T	NP_001274274.1:p.Pro443Leu