Canonical Allele Identifier: CA413918724

Gene: BTK

Linked Data

• ClinVar Variation Id: 1059586
• ClinVar RCV Id: RCV001368905
• dbSNP Id: rs2147424035
• MyVariant Identifiers: chrX:g.100608226C>G (hg19) ; chrX:g.101353238C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353238C>G , CM000685.2:g.101353238C>G	GRCh38
NC_000023.10:g.100608226C>G , CM000685.1:g.100608226C>G	GRCh37
NC_000023.9:g.100494882C>G	NCBI36
NG_009616.1:g.37987G>C , LRG_128:g.37987G>C
NG_011734.1:g.732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3381G>C
ENST00000488970.2:n.4020G>C
ENST00000695614.1:c.1864G>C	ENSP00000512053.1:p.Ala622Pro
ENST00000695615.1:c.1864G>C	ENSP00000512054.1:p.Ala622Pro
ENST00000695616.1:c.*1709G>C	ENSP00000512055.1:n.*1709G>C
ENST00000695617.1:c.1861G>C	ENSP00000512056.1:p.Ala621Pro
ENST00000695618.1:c.*1613G>C	ENSP00000512058.1:n.*1613G>C
ENST00000695619.1:c.*1574G>C	ENSP00000512059.1:n.*1574G>C
ENST00000695620.1:c.*1790G>C	ENSP00000512060.1:n.*1790G>C
ENST00000695621.1:c.*289G>C	ENSP00000512061.1:n.*289G>C
ENST00000695622.1:c.1801G>C	ENSP00000512062.1:p.Ala601Pro
ENST00000695623.1:c.1858G>C	ENSP00000512063.1:p.Ala620Pro
ENST00000695624.1:n.1169G>C
ENST00000695625.1:c.1864G>C	ENSP00000512064.1:p.Ala622Pro
ENST00000695626.1:c.619G>C	ENSP00000512065.1:n.619G>C
ENST00000695627.1:c.812G>C	ENSP00000512066.1:n.812G>C
ENST00000695628.1:c.423G>C	ENSP00000512067.1:n.423G>C
ENST00000695629.1:c.304G>C	ENSP00000512068.1:p.Ala102Pro
ENST00000695630.1:c.591G>C
ENST00000695631.1:c.125G>C
ENST00000703407.1:c.1336G>C	ENSP00000512057.1:p.Ala446Pro
ENST00000308731.8:c.1864G>C MANE Select	ENSP00000308176.8:p.Ala622Pro
ENST00000308731.7:c.1864G>C	ENSP00000308176.7:p.Ala622Pro
ENST00000372880.5:c.1336G>C	ENSP00000361971.1:p.Ala446Pro
ENST00000470069.1:n.229G>C
ENST00000618050.4:c.1863G>C	ENSP00000479125.1:n.1863G>C
ENST00000621635.4:c.1966G>C	ENSP00000483570.1:p.Ala656Pro
NM_000061.2:c.1864G>C , LRG_128t1:c.1864G>C	NP_000052.1:p.Ala622Pro
NM_001287344.1:c.1966G>C	NP_001274273.1:p.Ala656Pro
NM_001287345.1:c.1336G>C	NP_001274274.1:p.Ala446Pro
NM_000061.3:c.1864G>C MANE Select	NP_000052.1:p.Ala622Pro
NM_001287344.2:c.1966G>C	NP_001274273.1:p.Ala656Pro
NM_001287345.2:c.1336G>C	NP_001274274.1:p.Ala446Pro