Canonical Allele Identifier: CA413939241

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100630139T>C (hg19) ; chrX:g.101375151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101375151T>C , CM000685.2:g.101375151T>C	GRCh38
NC_000023.10:g.100630139T>C , CM000685.1:g.100630139T>C	GRCh37
NC_000023.9:g.100516795T>C	NCBI36
NG_009616.1:g.16074A>G , LRG_128:g.16074A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.294A>G
ENST00000488970.2:n.294A>G
ENST00000695614.1:c.134A>G	ENSP00000512053.1:p.Glu45Gly
ENST00000695615.1:c.134A>G	ENSP00000512054.1:p.Glu45Gly
ENST00000695616.1:c.134A>G	ENSP00000512055.1:p.Glu45Gly
ENST00000695617.1:c.134A>G	ENSP00000512056.1:p.Glu45Gly
ENST00000695618.1:c.134A>G	ENSP00000512058.1:p.Glu45Gly
ENST00000695619.1:c.134A>G	ENSP00000512059.1:p.Glu45Gly
ENST00000695620.1:c.134A>G	ENSP00000512060.1:p.Glu45Gly
ENST00000695621.1:c.134A>G	ENSP00000512061.1:p.Glu45Gly
ENST00000695622.1:c.134A>G	ENSP00000512062.1:p.Glu45Gly
ENST00000695623.1:c.134A>G	ENSP00000512063.1:p.Glu45Gly
ENST00000695625.1:c.134A>G	ENSP00000512064.1:p.Glu45Gly
ENST00000695633.1:n.447A>G
ENST00000695643.1:c.134A>G	ENSP00000512078.1:p.Glu45Gly
ENST00000703407.1:c.134A>G	ENSP00000512057.1:p.Glu45Gly
ENST00000308731.8:c.134A>G MANE Select	ENSP00000308176.8:p.Glu45Gly
ENST00000308731.7:c.134A>G	ENSP00000308176.7:p.Glu45Gly
ENST00000372880.5:c.134A>G	ENSP00000361971.1:p.Glu45Gly
ENST00000464567.1:n.251A>G
ENST00000618050.4:c.134A>G	ENSP00000479125.1:p.Glu45Gly
ENST00000621635.4:c.236A>G	ENSP00000483570.1:p.Glu79Gly
NM_000061.2:c.134A>G , LRG_128t1:c.134A>G	NP_000052.1:p.Glu45Gly
NM_001287344.1:c.236A>G	NP_001274273.1:p.Glu79Gly
NM_001287345.1:c.134A>G	NP_001274274.1:p.Glu45Gly
NM_000061.3:c.134A>G MANE Select	NP_000052.1:p.Glu45Gly
NM_001287344.2:c.236A>G	NP_001274273.1:p.Glu79Gly
NM_001287345.2:c.134A>G	NP_001274274.1:p.Glu45Gly