Canonical Allele Identifier: CA413919060

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608270G>A (hg19) ; chrX:g.101353282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353282G>A , CM000685.2:g.101353282G>A	GRCh38
NC_000023.10:g.100608270G>A , CM000685.1:g.100608270G>A	GRCh37
NC_000023.9:g.100494926G>A	NCBI36
NG_009616.1:g.37943C>T , LRG_128:g.37943C>T
NG_011734.1:g.688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3337C>T
ENST00000488970.2:n.3976C>T
ENST00000695614.1:c.1820C>T	ENSP00000512053.1:p.Ala607Val
ENST00000695615.1:c.1820C>T	ENSP00000512054.1:p.Ala607Val
ENST00000695616.1:c.*1665C>T	ENSP00000512055.1:n.*1665C>T
ENST00000695617.1:c.1817C>T	ENSP00000512056.1:p.Ala606Val
ENST00000695618.1:c.*1569C>T	ENSP00000512058.1:n.*1569C>T
ENST00000695619.1:c.*1530C>T	ENSP00000512059.1:n.*1530C>T
ENST00000695620.1:c.*1746C>T	ENSP00000512060.1:n.*1746C>T
ENST00000695621.1:c.*245C>T	ENSP00000512061.1:n.*245C>T
ENST00000695622.1:c.1757C>T	ENSP00000512062.1:p.Ala586Val
ENST00000695623.1:c.1814C>T	ENSP00000512063.1:p.Ala605Val
ENST00000695624.1:n.1125C>T
ENST00000695625.1:c.1820C>T	ENSP00000512064.1:p.Ala607Val
ENST00000695626.1:c.575C>T	ENSP00000512065.1:n.575C>T
ENST00000695627.1:c.768C>T	ENSP00000512066.1:n.768C>T
ENST00000695628.1:c.379C>T	ENSP00000512067.1:n.379C>T
ENST00000695629.1:c.260C>T	ENSP00000512068.1:p.Ala87Val
ENST00000695630.1:c.547C>T
ENST00000695631.1:c.115-34C>T
ENST00000703407.1:c.1292C>T	ENSP00000512057.1:p.Ala431Val
ENST00000308731.8:c.1820C>T MANE Select	ENSP00000308176.8:p.Ala607Val
ENST00000308731.7:c.1820C>T	ENSP00000308176.7:p.Ala607Val
ENST00000372880.5:c.1292C>T	ENSP00000361971.1:p.Ala431Val
ENST00000470069.1:n.185C>T
ENST00000618050.4:c.1819C>T	ENSP00000479125.1:n.1819C>T
ENST00000621635.4:c.1922C>T	ENSP00000483570.1:p.Ala641Val
NM_000061.2:c.1820C>T , LRG_128t1:c.1820C>T	NP_000052.1:p.Ala607Val
NM_001287344.1:c.1922C>T	NP_001274273.1:p.Ala641Val
NM_001287345.1:c.1292C>T	NP_001274274.1:p.Ala431Val
NM_000061.3:c.1820C>T MANE Select	NP_000052.1:p.Ala607Val
NM_001287344.2:c.1922C>T	NP_001274273.1:p.Ala641Val
NM_001287345.2:c.1292C>T	NP_001274274.1:p.Ala431Val