Canonical Allele Identifier: CA413930070

Gene: BTK

Linked Data

• ClinVar Variation Id: 492813
• ClinVar RCV Id: RCV000584540 ; RCV000657848 ; RCV000690161 ; RCV001001062 ; RCV001192716
• dbSNP Id: rs1555978277
• COSMIC: COSM199617
• MyVariant Identifiers: chrX:g.100614312C>T (hg19) ; chrX:g.101359324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359324C>T , CM000685.2:g.101359324C>T	GRCh38
NC_000023.10:g.100614312C>T , CM000685.1:g.100614312C>T	GRCh37
NC_000023.9:g.100500968C>T	NCBI36
NG_009616.1:g.31901G>A , LRG_128:g.31901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.643G>A
ENST00000478995.2:n.1023G>A
ENST00000488970.2:n.1021G>A
ENST00000695614.1:c.863G>A	ENSP00000512053.1:p.Arg288Gln
ENST00000695615.1:c.863G>A	ENSP00000512054.1:p.Arg288Gln
ENST00000695616.1:c.*708G>A	ENSP00000512055.1:n.*708G>A
ENST00000695617.1:c.860G>A	ENSP00000512056.1:p.Arg287Gln
ENST00000695618.1:c.*612G>A	ENSP00000512058.1:n.*612G>A
ENST00000695619.1:c.*684+764G>A	ENSP00000512059.1:n.*684+764G>A
ENST00000695620.1:c.*708G>A	ENSP00000512060.1:n.*708G>A
ENST00000695621.1:c.863G>A	ENSP00000512061.1:p.Arg288Gln
ENST00000695622.1:c.800G>A	ENSP00000512062.1:p.Arg267Gln
ENST00000695623.1:c.857G>A	ENSP00000512063.1:p.Arg286Gln
ENST00000695624.1:n.168G>A
ENST00000695625.1:c.863G>A	ENSP00000512064.1:p.Arg288Gln
ENST00000703407.1:c.863G>A	ENSP00000512057.1:p.Arg288Gln
ENST00000308731.8:c.863G>A MANE Select	ENSP00000308176.8:p.Arg288Gln
ENST00000308731.7:c.863G>A	ENSP00000308176.7:p.Arg288Gln
ENST00000372880.5:c.863G>A	ENSP00000361971.1:p.Arg288Gln
ENST00000618050.4:c.863G>A	ENSP00000479125.1:p.Arg288Gln
ENST00000621635.4:c.965G>A	ENSP00000483570.1:p.Arg322Gln
NM_000061.2:c.863G>A , LRG_128t1:c.863G>A	NP_000052.1:p.Arg288Gln
NM_001287344.1:c.965G>A	NP_001274273.1:p.Arg322Gln
NM_001287345.1:c.863G>A	NP_001274274.1:p.Arg288Gln
NM_000061.3:c.863G>A MANE Select	NP_000052.1:p.Arg288Gln
NM_001287344.2:c.965G>A	NP_001274273.1:p.Arg322Gln
NM_001287345.2:c.863G>A	NP_001274274.1:p.Arg288Gln