Canonical Allele Identifier: CA333096375

Gene: BTK

Linked Data

• dbSNP Id: rs192024158
• gnomAD v2: X-100608026-C-T
• gnomAD v3: X-101353038-C-T
• gnomAD v4: X-101353038-C-T
• MyVariant Identifiers: chrX:g.100608026C>T (hg19) ; chrX:g.101353038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353038C>T , CM000685.2:g.101353038C>T	GRCh38
NC_000023.10:g.100608026C>T , CM000685.1:g.100608026C>T	GRCh37
NC_000023.9:g.100494682C>T	NCBI36
NG_009616.1:g.38187G>A , LRG_128:g.38187G>A
NG_011734.1:g.932G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3425+156G>A
ENST00000488970.2:n.4064+156G>A
ENST00000695614.1:c.1908+156G>A	ENSP00000512053.1:n.1908+156G>A
ENST00000695615.1:c.1908+156G>A	ENSP00000512054.1:n.1908+156G>A
ENST00000695616.1:c.*1753+156G>A	ENSP00000512055.1:n.*1753+156G>A
ENST00000695617.1:c.1905+156G>A	ENSP00000512056.1:n.1905+156G>A
ENST00000695618.1:c.*1657+156G>A	ENSP00000512058.1:n.*1657+156G>A
ENST00000695619.1:c.*1618+156G>A	ENSP00000512059.1:n.*1618+156G>A
ENST00000695620.1:c.*1834+156G>A	ENSP00000512060.1:n.*1834+156G>A
ENST00000695621.1:c.*333+156G>A	ENSP00000512061.1:n.*333+156G>A
ENST00000695622.1:c.1845+156G>A	ENSP00000512062.1:n.1845+156G>A
ENST00000695623.1:c.1902+156G>A	ENSP00000512063.1:n.1902+156G>A
ENST00000695624.1:n.1213+156G>A
ENST00000695625.1:c.1875+189G>A	ENSP00000512064.1:n.1875+189G>A
ENST00000695626.1:c.663+156G>A	ENSP00000512065.1:n.663+156G>A
ENST00000695627.1:c.856+156G>A	ENSP00000512066.1:n.856+156G>A
ENST00000695628.1:c.467+156G>A	ENSP00000512067.1:n.467+156G>A
ENST00000695629.1:c.348+156G>A	ENSP00000512068.1:n.348+156G>A
ENST00000695630.1:c.635+156G>A
ENST00000695631.1:c.169+156G>A
ENST00000703407.1:c.1380+156G>A	ENSP00000512057.1:n.1380+156G>A
ENST00000308731.8:c.1908+156G>A MANE Select	ENSP00000308176.8:n.1908+156G>A
ENST00000308731.7:c.1908+156G>A	ENSP00000308176.7:n.1908+156G>A
ENST00000372880.5:c.1380+156G>A	ENSP00000361971.1:n.1380+156G>A
ENST00000618050.4:c.1907+156G>A	ENSP00000479125.1:n.1907+156G>A
ENST00000621635.4:c.2010+156G>A	ENSP00000483570.1:n.2010+156G>A
NM_000061.2:c.1908+156G>A , LRG_128t1:c.1908+156G>A	NP_000052.1:n.1908+156G>A
NM_001287344.1:c.2010+156G>A	NP_001274273.1:n.2010+156G>A
NM_001287345.1:c.1380+156G>A	NP_001274274.1:n.1380+156G>A
NM_000061.3:c.1908+156G>A MANE Select	NP_000052.1:n.1908+156G>A
NM_001287344.2:c.2010+156G>A	NP_001274273.1:n.2010+156G>A
NM_001287345.2:c.1380+156G>A	NP_001274274.1:n.1380+156G>A