Canonical Allele Identifier: CA517529756

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608313G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353325G>A , CM000685.2:g.101353325G>A	GRCh38
NC_000023.10:g.100608313G>A , CM000685.1:g.100608313G>A	GRCh37
NC_000023.9:g.100494969G>A	NCBI36
NG_009616.1:g.37900C>T , LRG_128:g.37900C>T
NG_011734.1:g.645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3294C>T
ENST00000488970.2:n.3933C>T
ENST00000695614.1:c.1777C>T	ENSP00000512053.1:p.Leu593=
ENST00000695615.1:c.1777C>T	ENSP00000512054.1:p.Leu593=
ENST00000695616.1:c.*1622C>T	ENSP00000512055.1:n.*1622C>T
ENST00000695617.1:c.1774C>T	ENSP00000512056.1:p.Leu592=
ENST00000695618.1:c.*1526C>T	ENSP00000512058.1:n.*1526C>T
ENST00000695619.1:c.*1487C>T	ENSP00000512059.1:n.*1487C>T
ENST00000695620.1:c.*1703C>T	ENSP00000512060.1:n.*1703C>T
ENST00000695621.1:c.*202C>T	ENSP00000512061.1:n.*202C>T
ENST00000695622.1:c.1714C>T	ENSP00000512062.1:p.Leu572=
ENST00000695623.1:c.1771C>T	ENSP00000512063.1:p.Leu591=
ENST00000695624.1:n.1082C>T
ENST00000695625.1:c.1777C>T	ENSP00000512064.1:p.Leu593=
ENST00000695626.1:c.532C>T	ENSP00000512065.1:n.532C>T
ENST00000695627.1:c.725C>T	ENSP00000512066.1:n.725C>T
ENST00000695628.1:c.336C>T	ENSP00000512067.1:n.336C>T
ENST00000695629.1:c.217C>T	ENSP00000512068.1:p.Leu73=
ENST00000695630.1:c.504C>T
ENST00000695631.1:c.115-77C>T
ENST00000703407.1:c.1249C>T	ENSP00000512057.1:p.Leu417=
ENST00000308731.8:c.1777C>T MANE Select	ENSP00000308176.8:p.Leu593=
ENST00000308731.7:c.1777C>T	ENSP00000308176.7:p.Leu593=
ENST00000372880.5:c.1249C>T	ENSP00000361971.1:p.Leu417=
ENST00000470069.1:n.142C>T
ENST00000488970.1:n.379C>T
ENST00000618050.4:c.1776C>T	ENSP00000479125.1:n.1776C>T
ENST00000621635.4:c.1879C>T	ENSP00000483570.1:p.Leu627=
NM_000061.2:c.1777C>T , LRG_128t1:c.1777C>T	NP_000052.1:p.Leu593=
NM_001287344.1:c.1879C>T	NP_001274273.1:p.Leu627=
NM_001287345.1:c.1249C>T	NP_001274274.1:p.Leu417=
NM_000061.3:c.1777C>T MANE Select	NP_000052.1:p.Leu593=
NM_001287344.2:c.1879C>T	NP_001274273.1:p.Leu627=
NM_001287345.2:c.1249C>T	NP_001274274.1:p.Leu417=