Canonical Allele Identifier: CA413918620

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608213A>T (hg19) ; chrX:g.101353225A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353225A>T , CM000685.2:g.101353225A>T	GRCh38
NC_000023.10:g.100608213A>T , CM000685.1:g.100608213A>T	GRCh37
NC_000023.9:g.100494869A>T	NCBI36
NG_009616.1:g.38000T>A , LRG_128:g.38000T>A
NG_011734.1:g.745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3394T>A
ENST00000488970.2:n.4033T>A
ENST00000695614.1:c.1877T>A	ENSP00000512053.1:p.Val626Glu
ENST00000695615.1:c.1877T>A	ENSP00000512054.1:p.Val626Glu
ENST00000695616.1:c.*1722T>A	ENSP00000512055.1:n.*1722T>A
ENST00000695617.1:c.1874T>A	ENSP00000512056.1:p.Val625Glu
ENST00000695618.1:c.*1626T>A	ENSP00000512058.1:n.*1626T>A
ENST00000695619.1:c.*1587T>A	ENSP00000512059.1:n.*1587T>A
ENST00000695620.1:c.*1803T>A	ENSP00000512060.1:n.*1803T>A
ENST00000695621.1:c.*302T>A	ENSP00000512061.1:n.*302T>A
ENST00000695622.1:c.1814T>A	ENSP00000512062.1:p.Val605Glu
ENST00000695623.1:c.1871T>A	ENSP00000512063.1:p.Val624Glu
ENST00000695624.1:n.1182T>A
ENST00000695625.1:c.1875+2T>A	ENSP00000512064.1:n.1875+2T>A
ENST00000695626.1:c.632T>A	ENSP00000512065.1:n.632T>A
ENST00000695627.1:c.825T>A	ENSP00000512066.1:n.825T>A
ENST00000695628.1:c.436T>A	ENSP00000512067.1:n.436T>A
ENST00000695629.1:c.317T>A	ENSP00000512068.1:p.Val106Glu
ENST00000695630.1:c.604T>A
ENST00000695631.1:c.138T>A
ENST00000703407.1:c.1349T>A	ENSP00000512057.1:p.Val450Glu
ENST00000308731.8:c.1877T>A MANE Select	ENSP00000308176.8:p.Val626Glu
ENST00000308731.7:c.1877T>A	ENSP00000308176.7:p.Val626Glu
ENST00000372880.5:c.1349T>A	ENSP00000361971.1:p.Val450Glu
ENST00000470069.1:n.242T>A
ENST00000618050.4:c.1876T>A	ENSP00000479125.1:n.1876T>A
ENST00000621635.4:c.1979T>A	ENSP00000483570.1:p.Val660Glu
NM_000061.2:c.1877T>A , LRG_128t1:c.1877T>A	NP_000052.1:p.Val626Glu
NM_001287344.1:c.1979T>A	NP_001274273.1:p.Val660Glu
NM_001287345.1:c.1349T>A	NP_001274274.1:p.Val450Glu
NM_000061.3:c.1877T>A MANE Select	NP_000052.1:p.Val626Glu
NM_001287344.2:c.1979T>A	NP_001274273.1:p.Val660Glu
NM_001287345.2:c.1349T>A	NP_001274274.1:p.Val450Glu