Canonical Allele Identifier: CA413919362

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608302C>T (hg19) ; chrX:g.101353314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353314C>T , CM000685.2:g.101353314C>T	GRCh38
NC_000023.10:g.100608302C>T , CM000685.1:g.100608302C>T	GRCh37
NC_000023.9:g.100494958C>T	NCBI36
NG_009616.1:g.37911G>A , LRG_128:g.37911G>A
NG_011734.1:g.656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3305G>A
ENST00000488970.2:n.3944G>A
ENST00000695614.1:c.1788G>A	ENSP00000512053.1:p.Met596Ile
ENST00000695615.1:c.1788G>A	ENSP00000512054.1:p.Met596Ile
ENST00000695616.1:c.*1633G>A	ENSP00000512055.1:n.*1633G>A
ENST00000695617.1:c.1785G>A	ENSP00000512056.1:p.Met595Ile
ENST00000695618.1:c.*1537G>A	ENSP00000512058.1:n.*1537G>A
ENST00000695619.1:c.*1498G>A	ENSP00000512059.1:n.*1498G>A
ENST00000695620.1:c.*1714G>A	ENSP00000512060.1:n.*1714G>A
ENST00000695621.1:c.*213G>A	ENSP00000512061.1:n.*213G>A
ENST00000695622.1:c.1725G>A	ENSP00000512062.1:p.Met575Ile
ENST00000695623.1:c.1782G>A	ENSP00000512063.1:p.Met594Ile
ENST00000695624.1:n.1093G>A
ENST00000695625.1:c.1788G>A	ENSP00000512064.1:p.Met596Ile
ENST00000695626.1:c.543G>A	ENSP00000512065.1:n.543G>A
ENST00000695627.1:c.736G>A	ENSP00000512066.1:n.736G>A
ENST00000695628.1:c.347G>A	ENSP00000512067.1:n.347G>A
ENST00000695629.1:c.228G>A	ENSP00000512068.1:p.Met76Ile
ENST00000695630.1:c.515G>A
ENST00000695631.1:c.115-66G>A
ENST00000703407.1:c.1260G>A	ENSP00000512057.1:p.Met420Ile
ENST00000308731.8:c.1788G>A MANE Select	ENSP00000308176.8:p.Met596Ile
ENST00000308731.7:c.1788G>A	ENSP00000308176.7:p.Met596Ile
ENST00000372880.5:c.1260G>A	ENSP00000361971.1:p.Met420Ile
ENST00000470069.1:n.153G>A
ENST00000618050.4:c.1787G>A	ENSP00000479125.1:n.1787G>A
ENST00000621635.4:c.1890G>A	ENSP00000483570.1:p.Met630Ile
NM_000061.2:c.1788G>A , LRG_128t1:c.1788G>A	NP_000052.1:p.Met596Ile
NM_001287344.1:c.1890G>A	NP_001274273.1:p.Met630Ile
NM_001287345.1:c.1260G>A	NP_001274274.1:p.Met420Ile
NM_000061.3:c.1788G>A MANE Select	NP_000052.1:p.Met596Ile
NM_001287344.2:c.1890G>A	NP_001274273.1:p.Met630Ile
NM_001287345.2:c.1260G>A	NP_001274274.1:p.Met420Ile