Canonical Allele Identifier: CA1135842393

Gene: BTK

Linked Data

• dbSNP Id: rs1926213762
• gnomAD v3: X-101349804-C-T
• gnomAD v4: X-101349804-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349804C>T , CM000685.2:g.101349804C>T	GRCh38
NC_000023.10:g.100604792C>T , CM000685.1:g.100604792C>T	GRCh37
NC_000023.9:g.100491448C>T	NCBI36
NG_009616.1:g.41421G>A , LRG_128:g.41421G>A
NG_011734.1:g.4166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3578G>A
ENST00000488970.2:n.4217G>A
ENST00000695614.1:c.*81G>A	ENSP00000512053.1:n.*81G>A
ENST00000695615.1:c.*81G>A	ENSP00000512054.1:n.*81G>A
ENST00000695616.1:c.*1906G>A	ENSP00000512055.1:n.*1906G>A
ENST00000695617.1:c.*81G>A	ENSP00000512056.1:n.*81G>A
ENST00000695618.1:c.*1810G>A	ENSP00000512058.1:n.*1810G>A
ENST00000695619.1:c.*1771G>A	ENSP00000512059.1:n.*1771G>A
ENST00000695620.1:c.*1987G>A	ENSP00000512060.1:n.*1987G>A
ENST00000695621.1:c.*486G>A	ENSP00000512061.1:n.*486G>A
ENST00000695622.1:c.*81G>A	ENSP00000512062.1:n.*81G>A
ENST00000695623.1:c.*81G>A	ENSP00000512063.1:n.*81G>A
ENST00000695624.1:n.1366G>A
ENST00000695625.1:c.*81G>A	ENSP00000512064.1:n.*81G>A
ENST00000695626.1:c.816G>A	ENSP00000512065.1:n.816G>A
ENST00000695627.1:c.1009G>A	ENSP00000512066.1:n.1009G>A
ENST00000695628.1:c.620G>A	ENSP00000512067.1:n.620G>A
ENST00000695629.1:c.501G>A	ENSP00000512068.1:n.501G>A
ENST00000703407.1:c.*81G>A	ENSP00000512057.1:n.*81G>A
ENST00000308731.8:c.*81G>A MANE Select	ENSP00000308176.8:n.*81G>A
ENST00000308731.7:c.*81G>A	ENSP00000308176.7:n.*81G>A
ENST00000372880.5:c.*81G>A	ENSP00000361971.1:n.*81G>A
ENST00000618050.4:c.2060G>A	ENSP00000479125.1:n.2060G>A
ENST00000621635.4:c.*81G>A	ENSP00000483570.1:n.*81G>A
NM_000061.2:c.*81G>A , LRG_128t1:c.*81G>A	NP_000052.1:n.*81G>A
NM_001287344.1:c.*81G>A	NP_001274273.1:n.*81G>A
NM_001287345.1:c.*81G>A	NP_001274274.1:n.*81G>A
NM_000061.3:c.*81G>A MANE Select	NP_000052.1:n.*81G>A
NM_001287344.2:c.*81G>A	NP_001274273.1:n.*81G>A
NM_001287345.2:c.*81G>A	NP_001274274.1:n.*81G>A