Canonical Allele Identifier: CA413921432

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608951T>A (hg19) ; chrX:g.101353963T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353963T>A , CM000685.2:g.101353963T>A	GRCh38
NC_000023.10:g.100608951T>A , CM000685.1:g.100608951T>A	GRCh37
NC_000023.9:g.100495607T>A	NCBI36
NG_009616.1:g.37262A>T , LRG_128:g.37262A>T
NG_011734.1:g.7A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3174A>T
ENST00000488970.2:n.3813A>T
ENST00000695614.1:c.1657A>T	ENSP00000512053.1:p.Ser553Cys
ENST00000695615.1:c.1657A>T	ENSP00000512054.1:p.Ser553Cys
ENST00000695616.1:c.*1502A>T	ENSP00000512055.1:n.*1502A>T
ENST00000695617.1:c.1654A>T	ENSP00000512056.1:p.Ser552Cys
ENST00000695618.1:c.*1406A>T	ENSP00000512058.1:n.*1406A>T
ENST00000695619.1:c.*1367A>T	ENSP00000512059.1:n.*1367A>T
ENST00000695620.1:c.*1583A>T	ENSP00000512060.1:n.*1583A>T
ENST00000695621.1:c.*82A>T	ENSP00000512061.1:n.*82A>T
ENST00000695622.1:c.1594A>T	ENSP00000512062.1:p.Ser532Cys
ENST00000695623.1:c.1651A>T	ENSP00000512063.1:p.Ser551Cys
ENST00000695624.1:n.962A>T
ENST00000695625.1:c.1657A>T	ENSP00000512064.1:p.Ser553Cys
ENST00000695626.1:c.412A>T	ENSP00000512065.1:n.412A>T
ENST00000695627.1:c.605A>T	ENSP00000512066.1:n.605A>T
ENST00000695628.1:c.216A>T	ENSP00000512067.1:p.Gln72His
ENST00000695629.1:c.191-612A>T	ENSP00000512068.1:n.191-612A>T
ENST00000695630.1:c.384A>T
ENST00000695631.1:c.115-715A>T
ENST00000695632.1:n.457A>T
ENST00000703407.1:c.1129A>T	ENSP00000512057.1:p.Ser377Cys
ENST00000308731.8:c.1657A>T MANE Select	ENSP00000308176.8:p.Ser553Cys
ENST00000308731.7:c.1657A>T	ENSP00000308176.7:p.Ser553Cys
ENST00000372880.5:c.1129A>T	ENSP00000361971.1:p.Ser377Cys
ENST00000470069.1:n.22A>T
ENST00000488970.1:n.259A>T
ENST00000618050.4:c.1657A>T	ENSP00000479125.1:p.Ser553Cys
ENST00000621635.4:c.1759A>T	ENSP00000483570.1:p.Ser587Cys
NM_000061.2:c.1657A>T , LRG_128t1:c.1657A>T	NP_000052.1:p.Ser553Cys
NM_001287344.1:c.1759A>T	NP_001274273.1:p.Ser587Cys
NM_001287345.1:c.1129A>T	NP_001274274.1:p.Ser377Cys
NM_000061.3:c.1657A>T MANE Select	NP_000052.1:p.Ser553Cys
NM_001287344.2:c.1759A>T	NP_001274273.1:p.Ser587Cys
NM_001287345.2:c.1129A>T	NP_001274274.1:p.Ser377Cys