Canonical Allele Identifier: CA413930121

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100614316T>G (hg19) ; chrX:g.101359328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359328T>G , CM000685.2:g.101359328T>G	GRCh38
NC_000023.10:g.100614316T>G , CM000685.1:g.100614316T>G	GRCh37
NC_000023.9:g.100500972T>G	NCBI36
NG_009616.1:g.31897A>C , LRG_128:g.31897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.639A>C
ENST00000478995.2:n.1019A>C
ENST00000488970.2:n.1017A>C
ENST00000695614.1:c.859A>C	ENSP00000512053.1:p.Thr287Pro
ENST00000695615.1:c.859A>C	ENSP00000512054.1:p.Thr287Pro
ENST00000695616.1:c.*704A>C	ENSP00000512055.1:n.*704A>C
ENST00000695617.1:c.856A>C	ENSP00000512056.1:p.Thr286Pro
ENST00000695618.1:c.*608A>C	ENSP00000512058.1:n.*608A>C
ENST00000695619.1:c.*684+760A>C	ENSP00000512059.1:n.*684+760A>C
ENST00000695620.1:c.*704A>C	ENSP00000512060.1:n.*704A>C
ENST00000695621.1:c.859A>C	ENSP00000512061.1:p.Thr287Pro
ENST00000695622.1:c.796A>C	ENSP00000512062.1:p.Thr266Pro
ENST00000695623.1:c.853A>C	ENSP00000512063.1:p.Thr285Pro
ENST00000695624.1:n.164A>C
ENST00000695625.1:c.859A>C	ENSP00000512064.1:p.Thr287Pro
ENST00000703407.1:c.859A>C	ENSP00000512057.1:p.Thr287Pro
ENST00000308731.8:c.859A>C MANE Select	ENSP00000308176.8:p.Thr287Pro
ENST00000308731.7:c.859A>C	ENSP00000308176.7:p.Thr287Pro
ENST00000372880.5:c.859A>C	ENSP00000361971.1:p.Thr287Pro
ENST00000618050.4:c.859A>C	ENSP00000479125.1:p.Thr287Pro
ENST00000621635.4:c.961A>C	ENSP00000483570.1:p.Thr321Pro
NM_000061.2:c.859A>C , LRG_128t1:c.859A>C	NP_000052.1:p.Thr287Pro
NM_001287344.1:c.961A>C	NP_001274273.1:p.Thr321Pro
NM_001287345.1:c.859A>C	NP_001274274.1:p.Thr287Pro
NM_000061.3:c.859A>C MANE Select	NP_000052.1:p.Thr287Pro
NM_001287344.2:c.961A>C	NP_001274273.1:p.Thr321Pro
NM_001287345.2:c.859A>C	NP_001274274.1:p.Thr287Pro