Canonical Allele Identifier: CA2694295375

Gene: BTK

Linked Data

• gnomAD v4: X-101353481-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353481A>C , CM000685.2:g.101353481A>C	GRCh38
NC_000023.10:g.100608469A>C , CM000685.1:g.100608469A>C	GRCh37
NC_000023.9:g.100495125A>C	NCBI36
NG_009616.1:g.37744T>G , LRG_128:g.37744T>G
NG_011734.1:g.489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268-130T>G
ENST00000488970.2:n.3907-130T>G
ENST00000695614.1:c.1751-130T>G	ENSP00000512053.1:n.1751-130T>G
ENST00000695615.1:c.1751-130T>G	ENSP00000512054.1:n.1751-130T>G
ENST00000695616.1:c.*1596-130T>G	ENSP00000512055.1:n.*1596-130T>G
ENST00000695617.1:c.1748-130T>G	ENSP00000512056.1:n.1748-130T>G
ENST00000695618.1:c.*1500-130T>G	ENSP00000512058.1:n.*1500-130T>G
ENST00000695619.1:c.*1461-130T>G	ENSP00000512059.1:n.*1461-130T>G
ENST00000695620.1:c.*1677-130T>G	ENSP00000512060.1:n.*1677-130T>G
ENST00000695621.1:c.*176-130T>G	ENSP00000512061.1:n.*176-130T>G
ENST00000695622.1:c.1688-130T>G	ENSP00000512062.1:n.1688-130T>G
ENST00000695623.1:c.1745-130T>G	ENSP00000512063.1:n.1745-130T>G
ENST00000695624.1:n.1056-130T>G
ENST00000695625.1:c.1751-130T>G	ENSP00000512064.1:n.1751-130T>G
ENST00000695626.1:c.506-130T>G	ENSP00000512065.1:n.506-130T>G
ENST00000695627.1:c.699-130T>G	ENSP00000512066.1:n.699-130T>G
ENST00000695628.1:c.310-130T>G	ENSP00000512067.1:n.310-130T>G
ENST00000695629.1:c.191-130T>G	ENSP00000512068.1:n.191-130T>G
ENST00000695630.1:c.478-130T>G
ENST00000695631.1:c.115-233T>G
ENST00000703407.1:c.1223-130T>G	ENSP00000512057.1:n.1223-130T>G
ENST00000308731.8:c.1751-130T>G MANE Select	ENSP00000308176.8:n.1751-130T>G
ENST00000308731.7:c.1751-130T>G	ENSP00000308176.7:n.1751-130T>G
ENST00000372880.5:c.1223-130T>G	ENSP00000361971.1:n.1223-130T>G
ENST00000470069.1:n.116-130T>G
ENST00000488970.1:n.353-130T>G
ENST00000618050.4:c.1750-130T>G	ENSP00000479125.1:n.1750-130T>G
ENST00000621635.4:c.1853-130T>G	ENSP00000483570.1:n.1853-130T>G
NM_000061.2:c.1751-130T>G , LRG_128t1:c.1751-130T>G	NP_000052.1:n.1751-130T>G
NM_001287344.1:c.1853-130T>G	NP_001274273.1:n.1853-130T>G
NM_001287345.1:c.1223-130T>G	NP_001274274.1:n.1223-130T>G
NM_000061.3:c.1751-130T>G MANE Select	NP_000052.1:n.1751-130T>G
NM_001287344.2:c.1853-130T>G	NP_001274273.1:n.1853-130T>G
NM_001287345.2:c.1223-130T>G	NP_001274274.1:n.1223-130T>G