Canonical Allele Identifier: CA413918670

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608219T>A (hg19) ; chrX:g.101353231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353231T>A , CM000685.2:g.101353231T>A	GRCh38
NC_000023.10:g.100608219T>A , CM000685.1:g.100608219T>A	GRCh37
NC_000023.9:g.100494875T>A	NCBI36
NG_009616.1:g.37994A>T , LRG_128:g.37994A>T
NG_011734.1:g.739A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3388A>T
ENST00000488970.2:n.4027A>T
ENST00000695614.1:c.1871A>T	ENSP00000512053.1:p.Glu624Val
ENST00000695615.1:c.1871A>T	ENSP00000512054.1:p.Glu624Val
ENST00000695616.1:c.*1716A>T	ENSP00000512055.1:n.*1716A>T
ENST00000695617.1:c.1868A>T	ENSP00000512056.1:p.Glu623Val
ENST00000695618.1:c.*1620A>T	ENSP00000512058.1:n.*1620A>T
ENST00000695619.1:c.*1581A>T	ENSP00000512059.1:n.*1581A>T
ENST00000695620.1:c.*1797A>T	ENSP00000512060.1:n.*1797A>T
ENST00000695621.1:c.*296A>T	ENSP00000512061.1:n.*296A>T
ENST00000695622.1:c.1808A>T	ENSP00000512062.1:p.Glu603Val
ENST00000695623.1:c.1865A>T	ENSP00000512063.1:p.Glu622Val
ENST00000695624.1:n.1176A>T
ENST00000695625.1:c.1871A>T	ENSP00000512064.1:p.Glu624Val
ENST00000695626.1:c.626A>T	ENSP00000512065.1:n.626A>T
ENST00000695627.1:c.819A>T	ENSP00000512066.1:n.819A>T
ENST00000695628.1:c.430A>T	ENSP00000512067.1:n.430A>T
ENST00000695629.1:c.311A>T	ENSP00000512068.1:p.Glu104Val
ENST00000695630.1:c.598A>T
ENST00000695631.1:c.132A>T
ENST00000703407.1:c.1343A>T	ENSP00000512057.1:p.Glu448Val
ENST00000308731.8:c.1871A>T MANE Select	ENSP00000308176.8:p.Glu624Val
ENST00000308731.7:c.1871A>T	ENSP00000308176.7:p.Glu624Val
ENST00000372880.5:c.1343A>T	ENSP00000361971.1:p.Glu448Val
ENST00000470069.1:n.236A>T
ENST00000618050.4:c.1870A>T	ENSP00000479125.1:n.1870A>T
ENST00000621635.4:c.1973A>T	ENSP00000483570.1:p.Glu658Val
NM_000061.2:c.1871A>T , LRG_128t1:c.1871A>T	NP_000052.1:p.Glu624Val
NM_001287344.1:c.1973A>T	NP_001274273.1:p.Glu658Val
NM_001287345.1:c.1343A>T	NP_001274274.1:p.Glu448Val
NM_000061.3:c.1871A>T MANE Select	NP_000052.1:p.Glu624Val
NM_001287344.2:c.1973A>T	NP_001274273.1:p.Glu658Val
NM_001287345.2:c.1343A>T	NP_001274274.1:p.Glu448Val