Canonical Allele Identifier: CA413920203

Gene: BTK

Linked Data

• ClinVar Variation Id: 843976
• ClinVar RCV Id: RCV001046707
• dbSNP Id: rs1926379592
• MyVariant Identifiers: chrX:g.100608888A>G (hg19) ; chrX:g.101353900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353900A>G , CM000685.2:g.101353900A>G	GRCh38
NC_000023.10:g.100608888A>G , CM000685.1:g.100608888A>G	GRCh37
NC_000023.9:g.100495544A>G	NCBI36
NG_009616.1:g.37325T>C , LRG_128:g.37325T>C
NG_011734.1:g.70T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3237T>C
ENST00000488970.2:n.3876T>C
ENST00000695614.1:c.1720T>C	ENSP00000512053.1:p.Phe574Leu
ENST00000695615.1:c.1720T>C	ENSP00000512054.1:p.Phe574Leu
ENST00000695616.1:c.*1565T>C	ENSP00000512055.1:n.*1565T>C
ENST00000695617.1:c.1717T>C	ENSP00000512056.1:p.Phe573Leu
ENST00000695618.1:c.*1469T>C	ENSP00000512058.1:n.*1469T>C
ENST00000695619.1:c.*1430T>C	ENSP00000512059.1:n.*1430T>C
ENST00000695620.1:c.*1646T>C	ENSP00000512060.1:n.*1646T>C
ENST00000695621.1:c.*145T>C	ENSP00000512061.1:n.*145T>C
ENST00000695622.1:c.1657T>C	ENSP00000512062.1:p.Phe553Leu
ENST00000695623.1:c.1714T>C	ENSP00000512063.1:p.Phe572Leu
ENST00000695624.1:n.1025T>C
ENST00000695625.1:c.1720T>C	ENSP00000512064.1:p.Phe574Leu
ENST00000695626.1:c.475T>C	ENSP00000512065.1:n.475T>C
ENST00000695627.1:c.668T>C	ENSP00000512066.1:n.668T>C
ENST00000695628.1:c.279T>C	ENSP00000512067.1:n.279T>C
ENST00000695629.1:c.191-549T>C	ENSP00000512068.1:n.191-549T>C
ENST00000695630.1:c.447T>C
ENST00000695631.1:c.115-652T>C
ENST00000695632.1:n.520T>C
ENST00000703407.1:c.1192T>C	ENSP00000512057.1:p.Phe398Leu
ENST00000308731.8:c.1720T>C MANE Select	ENSP00000308176.8:p.Phe574Leu
ENST00000308731.7:c.1720T>C	ENSP00000308176.7:p.Phe574Leu
ENST00000372880.5:c.1192T>C	ENSP00000361971.1:p.Phe398Leu
ENST00000470069.1:n.85T>C
ENST00000488970.1:n.322T>C
ENST00000618050.4:c.1719T>C	ENSP00000479125.1:n.1719T>C
ENST00000621635.4:c.1822T>C	ENSP00000483570.1:p.Phe608Leu
NM_000061.2:c.1720T>C , LRG_128t1:c.1720T>C	NP_000052.1:p.Phe574Leu
NM_001287344.1:c.1822T>C	NP_001274273.1:p.Phe608Leu
NM_001287345.1:c.1192T>C	NP_001274274.1:p.Phe398Leu
NM_000061.3:c.1720T>C MANE Select	NP_000052.1:p.Phe574Leu
NM_001287344.2:c.1822T>C	NP_001274273.1:p.Phe608Leu
NM_001287345.2:c.1192T>C	NP_001274274.1:p.Phe398Leu