Canonical Allele Identifier: CA413919081

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608273G>A (hg19) ; chrX:g.101353285G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353285G>A , CM000685.2:g.101353285G>A	GRCh38
NC_000023.10:g.100608273G>A , CM000685.1:g.100608273G>A	GRCh37
NC_000023.9:g.100494929G>A	NCBI36
NG_009616.1:g.37940C>T , LRG_128:g.37940C>T
NG_011734.1:g.685C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3334C>T
ENST00000488970.2:n.3973C>T
ENST00000695614.1:c.1817C>T	ENSP00000512053.1:p.Thr606Ile
ENST00000695615.1:c.1817C>T	ENSP00000512054.1:p.Thr606Ile
ENST00000695616.1:c.*1662C>T	ENSP00000512055.1:n.*1662C>T
ENST00000695617.1:c.1814C>T	ENSP00000512056.1:p.Thr605Ile
ENST00000695618.1:c.*1566C>T	ENSP00000512058.1:n.*1566C>T
ENST00000695619.1:c.*1527C>T	ENSP00000512059.1:n.*1527C>T
ENST00000695620.1:c.*1743C>T	ENSP00000512060.1:n.*1743C>T
ENST00000695621.1:c.*242C>T	ENSP00000512061.1:n.*242C>T
ENST00000695622.1:c.1754C>T	ENSP00000512062.1:p.Thr585Ile
ENST00000695623.1:c.1811C>T	ENSP00000512063.1:p.Thr604Ile
ENST00000695624.1:n.1122C>T
ENST00000695625.1:c.1817C>T	ENSP00000512064.1:p.Thr606Ile
ENST00000695626.1:c.572C>T	ENSP00000512065.1:n.572C>T
ENST00000695627.1:c.765C>T	ENSP00000512066.1:n.765C>T
ENST00000695628.1:c.376C>T	ENSP00000512067.1:n.376C>T
ENST00000695629.1:c.257C>T	ENSP00000512068.1:p.Thr86Ile
ENST00000695630.1:c.544C>T
ENST00000695631.1:c.115-37C>T
ENST00000703407.1:c.1289C>T	ENSP00000512057.1:p.Thr430Ile
ENST00000308731.8:c.1817C>T MANE Select	ENSP00000308176.8:p.Thr606Ile
ENST00000308731.7:c.1817C>T	ENSP00000308176.7:p.Thr606Ile
ENST00000372880.5:c.1289C>T	ENSP00000361971.1:p.Thr430Ile
ENST00000470069.1:n.182C>T
ENST00000618050.4:c.1816C>T	ENSP00000479125.1:n.1816C>T
ENST00000621635.4:c.1919C>T	ENSP00000483570.1:p.Thr640Ile
NM_000061.2:c.1817C>T , LRG_128t1:c.1817C>T	NP_000052.1:p.Thr606Ile
NM_001287344.1:c.1919C>T	NP_001274273.1:p.Thr640Ile
NM_001287345.1:c.1289C>T	NP_001274274.1:p.Thr430Ile
NM_000061.3:c.1817C>T MANE Select	NP_000052.1:p.Thr606Ile
NM_001287344.2:c.1919C>T	NP_001274273.1:p.Thr640Ile
NM_001287345.2:c.1289C>T	NP_001274274.1:p.Thr430Ile