Canonical Allele Identifier: CA413920365

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608905A>G (hg19) ; chrX:g.101353917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353917A>G , CM000685.2:g.101353917A>G	GRCh38
NC_000023.10:g.100608905A>G , CM000685.1:g.100608905A>G	GRCh37
NC_000023.9:g.100495561A>G	NCBI36
NG_009616.1:g.37308T>C , LRG_128:g.37308T>C
NG_011734.1:g.53T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3220T>C
ENST00000488970.2:n.3859T>C
ENST00000695614.1:c.1703T>C	ENSP00000512053.1:p.Val568Ala
ENST00000695615.1:c.1703T>C	ENSP00000512054.1:p.Val568Ala
ENST00000695616.1:c.*1548T>C	ENSP00000512055.1:n.*1548T>C
ENST00000695617.1:c.1700T>C	ENSP00000512056.1:p.Val567Ala
ENST00000695618.1:c.*1452T>C	ENSP00000512058.1:n.*1452T>C
ENST00000695619.1:c.*1413T>C	ENSP00000512059.1:n.*1413T>C
ENST00000695620.1:c.*1629T>C	ENSP00000512060.1:n.*1629T>C
ENST00000695621.1:c.*128T>C	ENSP00000512061.1:n.*128T>C
ENST00000695622.1:c.1640T>C	ENSP00000512062.1:p.Val547Ala
ENST00000695623.1:c.1697T>C	ENSP00000512063.1:p.Val566Ala
ENST00000695624.1:n.1008T>C
ENST00000695625.1:c.1703T>C	ENSP00000512064.1:p.Val568Ala
ENST00000695626.1:c.458T>C	ENSP00000512065.1:n.458T>C
ENST00000695627.1:c.651T>C	ENSP00000512066.1:n.651T>C
ENST00000695628.1:c.262T>C	ENSP00000512067.1:n.262T>C
ENST00000695629.1:c.191-566T>C	ENSP00000512068.1:n.191-566T>C
ENST00000695630.1:c.430T>C
ENST00000695631.1:c.115-669T>C
ENST00000695632.1:n.503T>C
ENST00000703407.1:c.1175T>C	ENSP00000512057.1:p.Val392Ala
ENST00000308731.8:c.1703T>C MANE Select	ENSP00000308176.8:p.Val568Ala
ENST00000308731.7:c.1703T>C	ENSP00000308176.7:p.Val568Ala
ENST00000372880.5:c.1175T>C	ENSP00000361971.1:p.Val392Ala
ENST00000470069.1:n.68T>C
ENST00000488970.1:n.305T>C
ENST00000618050.4:c.1702T>C	ENSP00000479125.1:p.Ser568Pro
ENST00000621635.4:c.1805T>C	ENSP00000483570.1:p.Val602Ala
NM_000061.2:c.1703T>C , LRG_128t1:c.1703T>C	NP_000052.1:p.Val568Ala
NM_001287344.1:c.1805T>C	NP_001274273.1:p.Val602Ala
NM_001287345.1:c.1175T>C	NP_001274274.1:p.Val392Ala
NM_000061.3:c.1703T>C MANE Select	NP_000052.1:p.Val568Ala
NM_001287344.2:c.1805T>C	NP_001274273.1:p.Val602Ala
NM_001287345.2:c.1175T>C	NP_001274274.1:p.Val392Ala