Canonical Allele Identifier: CA517529679

Gene: BTK

Linked Data

• COSMIC: COSM1464400
• MyVariant Identifiers: chrX:g.100608272A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353284A>C , CM000685.2:g.101353284A>C	GRCh38
NC_000023.10:g.100608272A>C , CM000685.1:g.100608272A>C	GRCh37
NC_000023.9:g.100494928A>C	NCBI36
NG_009616.1:g.37941T>G , LRG_128:g.37941T>G
NG_011734.1:g.686T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3335T>G
ENST00000488970.2:n.3974T>G
ENST00000695614.1:c.1818T>G	ENSP00000512053.1:p.Thr606=
ENST00000695615.1:c.1818T>G	ENSP00000512054.1:p.Thr606=
ENST00000695616.1:c.*1663T>G	ENSP00000512055.1:n.*1663T>G
ENST00000695617.1:c.1815T>G	ENSP00000512056.1:p.Thr605=
ENST00000695618.1:c.*1567T>G	ENSP00000512058.1:n.*1567T>G
ENST00000695619.1:c.*1528T>G	ENSP00000512059.1:n.*1528T>G
ENST00000695620.1:c.*1744T>G	ENSP00000512060.1:n.*1744T>G
ENST00000695621.1:c.*243T>G	ENSP00000512061.1:n.*243T>G
ENST00000695622.1:c.1755T>G	ENSP00000512062.1:p.Thr585=
ENST00000695623.1:c.1812T>G	ENSP00000512063.1:p.Thr604=
ENST00000695624.1:n.1123T>G
ENST00000695625.1:c.1818T>G	ENSP00000512064.1:p.Thr606=
ENST00000695626.1:c.573T>G	ENSP00000512065.1:n.573T>G
ENST00000695627.1:c.766T>G	ENSP00000512066.1:n.766T>G
ENST00000695628.1:c.377T>G	ENSP00000512067.1:n.377T>G
ENST00000695629.1:c.258T>G	ENSP00000512068.1:p.Thr86=
ENST00000695630.1:c.545T>G
ENST00000695631.1:c.115-36T>G
ENST00000703407.1:c.1290T>G	ENSP00000512057.1:p.Thr430=
ENST00000308731.8:c.1818T>G MANE Select	ENSP00000308176.8:p.Thr606=
ENST00000308731.7:c.1818T>G	ENSP00000308176.7:p.Thr606=
ENST00000372880.5:c.1290T>G	ENSP00000361971.1:p.Thr430=
ENST00000470069.1:n.183T>G
ENST00000618050.4:c.1817T>G	ENSP00000479125.1:n.1817T>G
ENST00000621635.4:c.1920T>G	ENSP00000483570.1:p.Thr640=
NM_000061.2:c.1818T>G , LRG_128t1:c.1818T>G	NP_000052.1:p.Thr606=
NM_001287344.1:c.1920T>G	NP_001274273.1:p.Thr640=
NM_001287345.1:c.1290T>G	NP_001274274.1:p.Thr430=
NM_000061.3:c.1818T>G MANE Select	NP_000052.1:p.Thr606=
NM_001287344.2:c.1920T>G	NP_001274273.1:p.Thr640=
NM_001287345.2:c.1290T>G	NP_001274274.1:p.Thr430=