Canonical Allele Identifier: CA413926098

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100612518A>G (hg19) ; chrX:g.101357530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357530A>G , CM000685.2:g.101357530A>G	GRCh38
NC_000023.10:g.100612518A>G , CM000685.1:g.100612518A>G	GRCh37
NC_000023.9:g.100499174A>G	NCBI36
NG_009616.1:g.33695T>C , LRG_128:g.33695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1316T>C
ENST00000488970.2:n.1314T>C
ENST00000695614.1:c.1156T>C	ENSP00000512053.1:p.Ser386Pro
ENST00000695615.1:c.1156T>C	ENSP00000512054.1:p.Ser386Pro
ENST00000695616.1:c.*1001T>C	ENSP00000512055.1:n.*1001T>C
ENST00000695617.1:c.1153T>C	ENSP00000512056.1:p.Ser385Pro
ENST00000695618.1:c.*905T>C	ENSP00000512058.1:n.*905T>C
ENST00000695619.1:c.*866T>C	ENSP00000512059.1:n.*866T>C
ENST00000695620.1:c.*1001T>C	ENSP00000512060.1:n.*1001T>C
ENST00000695621.1:c.1156T>C	ENSP00000512061.1:p.Ser386Pro
ENST00000695622.1:c.1093T>C	ENSP00000512062.1:p.Ser365Pro
ENST00000695623.1:c.1150T>C	ENSP00000512063.1:p.Ser384Pro
ENST00000695624.1:n.461T>C
ENST00000695625.1:c.1156T>C	ENSP00000512064.1:p.Ser386Pro
ENST00000695626.1:c.169T>C	ENSP00000512065.1:p.Ser57Pro
ENST00000695627.1:c.169T>C	ENSP00000512066.1:p.Ser57Pro
ENST00000695628.1:c.169T>C	ENSP00000512067.1:p.Ser57Pro
ENST00000695629.1:c.169T>C	ENSP00000512068.1:p.Ser57Pro
ENST00000695630.1:c.165T>C
ENST00000695631.1:c.114+780T>C
ENST00000695632.1:n.173T>C
ENST00000703407.1:c.1038+844T>C	ENSP00000512057.1:n.1038+844T>C
ENST00000308731.8:c.1156T>C MANE Select	ENSP00000308176.8:p.Ser386Pro
ENST00000308731.7:c.1156T>C	ENSP00000308176.7:p.Ser386Pro
ENST00000372880.5:c.1038+844T>C	ENSP00000361971.1:n.1038+844T>C
ENST00000470329.1:n.106T>C
ENST00000618050.4:c.1156T>C	ENSP00000479125.1:p.Ser386Pro
ENST00000621635.4:c.1258T>C	ENSP00000483570.1:p.Ser420Pro
NM_000061.2:c.1156T>C , LRG_128t1:c.1156T>C	NP_000052.1:p.Ser386Pro
NM_001287344.1:c.1258T>C	NP_001274273.1:p.Ser420Pro
NM_001287345.1:c.1038+844T>C	NP_001274274.1:n.1038+844T>C
NM_000061.3:c.1156T>C MANE Select	NP_000052.1:p.Ser386Pro
NM_001287344.2:c.1258T>C	NP_001274273.1:p.Ser420Pro
NM_001287345.2:c.1038+844T>C	NP_001274274.1:n.1038+844T>C