Canonical Allele Identifier: CA517529673

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608269A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353281A>T , CM000685.2:g.101353281A>T	GRCh38
NC_000023.10:g.100608269A>T , CM000685.1:g.100608269A>T	GRCh37
NC_000023.9:g.100494925A>T	NCBI36
NG_009616.1:g.37944T>A , LRG_128:g.37944T>A
NG_011734.1:g.689T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3338T>A
ENST00000488970.2:n.3977T>A
ENST00000695614.1:c.1821T>A	ENSP00000512053.1:p.Ala607=
ENST00000695615.1:c.1821T>A	ENSP00000512054.1:p.Ala607=
ENST00000695616.1:c.*1666T>A	ENSP00000512055.1:n.*1666T>A
ENST00000695617.1:c.1818T>A	ENSP00000512056.1:p.Ala606=
ENST00000695618.1:c.*1570T>A	ENSP00000512058.1:n.*1570T>A
ENST00000695619.1:c.*1531T>A	ENSP00000512059.1:n.*1531T>A
ENST00000695620.1:c.*1747T>A	ENSP00000512060.1:n.*1747T>A
ENST00000695621.1:c.*246T>A	ENSP00000512061.1:n.*246T>A
ENST00000695622.1:c.1758T>A	ENSP00000512062.1:p.Ala586=
ENST00000695623.1:c.1815T>A	ENSP00000512063.1:p.Ala605=
ENST00000695624.1:n.1126T>A
ENST00000695625.1:c.1821T>A	ENSP00000512064.1:p.Ala607=
ENST00000695626.1:c.576T>A	ENSP00000512065.1:n.576T>A
ENST00000695627.1:c.769T>A	ENSP00000512066.1:n.769T>A
ENST00000695628.1:c.380T>A	ENSP00000512067.1:n.380T>A
ENST00000695629.1:c.261T>A	ENSP00000512068.1:p.Ala87=
ENST00000695630.1:c.548T>A
ENST00000695631.1:c.115-33T>A
ENST00000703407.1:c.1293T>A	ENSP00000512057.1:p.Ala431=
ENST00000308731.8:c.1821T>A MANE Select	ENSP00000308176.8:p.Ala607=
ENST00000308731.7:c.1821T>A	ENSP00000308176.7:p.Ala607=
ENST00000372880.5:c.1293T>A	ENSP00000361971.1:p.Ala431=
ENST00000470069.1:n.186T>A
ENST00000618050.4:c.1820T>A	ENSP00000479125.1:n.1820T>A
ENST00000621635.4:c.1923T>A	ENSP00000483570.1:p.Ala641=
NM_000061.2:c.1821T>A , LRG_128t1:c.1821T>A	NP_000052.1:p.Ala607=
NM_001287344.1:c.1923T>A	NP_001274273.1:p.Ala641=
NM_001287345.1:c.1293T>A	NP_001274274.1:p.Ala431=
NM_000061.3:c.1821T>A MANE Select	NP_000052.1:p.Ala607=
NM_001287344.2:c.1923T>A	NP_001274273.1:p.Ala641=
NM_001287345.2:c.1293T>A	NP_001274274.1:p.Ala431=