Canonical Allele Identifier: CA413919180

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608283T>A (hg19) ; chrX:g.101353295T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353295T>A , CM000685.2:g.101353295T>A	GRCh38
NC_000023.10:g.100608283T>A , CM000685.1:g.100608283T>A	GRCh37
NC_000023.9:g.100494939T>A	NCBI36
NG_009616.1:g.37930A>T , LRG_128:g.37930A>T
NG_011734.1:g.675A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3324A>T
ENST00000488970.2:n.3963A>T
ENST00000695614.1:c.1807A>T	ENSP00000512053.1:p.Asn603Tyr
ENST00000695615.1:c.1807A>T	ENSP00000512054.1:p.Asn603Tyr
ENST00000695616.1:c.*1652A>T	ENSP00000512055.1:n.*1652A>T
ENST00000695617.1:c.1804A>T	ENSP00000512056.1:p.Asn602Tyr
ENST00000695618.1:c.*1556A>T	ENSP00000512058.1:n.*1556A>T
ENST00000695619.1:c.*1517A>T	ENSP00000512059.1:n.*1517A>T
ENST00000695620.1:c.*1733A>T	ENSP00000512060.1:n.*1733A>T
ENST00000695621.1:c.*232A>T	ENSP00000512061.1:n.*232A>T
ENST00000695622.1:c.1744A>T	ENSP00000512062.1:p.Asn582Tyr
ENST00000695623.1:c.1801A>T	ENSP00000512063.1:p.Asn601Tyr
ENST00000695624.1:n.1112A>T
ENST00000695625.1:c.1807A>T	ENSP00000512064.1:p.Asn603Tyr
ENST00000695626.1:c.562A>T	ENSP00000512065.1:n.562A>T
ENST00000695627.1:c.755A>T	ENSP00000512066.1:n.755A>T
ENST00000695628.1:c.366A>T	ENSP00000512067.1:n.366A>T
ENST00000695629.1:c.247A>T	ENSP00000512068.1:p.Asn83Tyr
ENST00000695630.1:c.534A>T
ENST00000695631.1:c.115-47A>T
ENST00000703407.1:c.1279A>T	ENSP00000512057.1:p.Asn427Tyr
ENST00000308731.8:c.1807A>T MANE Select	ENSP00000308176.8:p.Asn603Tyr
ENST00000308731.7:c.1807A>T	ENSP00000308176.7:p.Asn603Tyr
ENST00000372880.5:c.1279A>T	ENSP00000361971.1:p.Asn427Tyr
ENST00000470069.1:n.172A>T
ENST00000618050.4:c.1806A>T	ENSP00000479125.1:n.1806A>T
ENST00000621635.4:c.1909A>T	ENSP00000483570.1:p.Asn637Tyr
NM_000061.2:c.1807A>T , LRG_128t1:c.1807A>T	NP_000052.1:p.Asn603Tyr
NM_001287344.1:c.1909A>T	NP_001274273.1:p.Asn637Tyr
NM_001287345.1:c.1279A>T	NP_001274274.1:p.Asn427Tyr
NM_000061.3:c.1807A>T MANE Select	NP_000052.1:p.Asn603Tyr
NM_001287344.2:c.1909A>T	NP_001274273.1:p.Asn637Tyr
NM_001287345.2:c.1279A>T	NP_001274274.1:p.Asn427Tyr