Canonical Allele Identifier: CA2694295373

Gene: BTK

Linked Data

• gnomAD v4: X-101353479-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353479C>A , CM000685.2:g.101353479C>A	GRCh38
NC_000023.10:g.100608467C>A , CM000685.1:g.100608467C>A	GRCh37
NC_000023.9:g.100495123C>A	NCBI36
NG_009616.1:g.37746G>T , LRG_128:g.37746G>T
NG_011734.1:g.491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268-128G>T
ENST00000488970.2:n.3907-128G>T
ENST00000695614.1:c.1751-128G>T	ENSP00000512053.1:n.1751-128G>T
ENST00000695615.1:c.1751-128G>T	ENSP00000512054.1:n.1751-128G>T
ENST00000695616.1:c.*1596-128G>T	ENSP00000512055.1:n.*1596-128G>T
ENST00000695617.1:c.1748-128G>T	ENSP00000512056.1:n.1748-128G>T
ENST00000695618.1:c.*1500-128G>T	ENSP00000512058.1:n.*1500-128G>T
ENST00000695619.1:c.*1461-128G>T	ENSP00000512059.1:n.*1461-128G>T
ENST00000695620.1:c.*1677-128G>T	ENSP00000512060.1:n.*1677-128G>T
ENST00000695621.1:c.*176-128G>T	ENSP00000512061.1:n.*176-128G>T
ENST00000695622.1:c.1688-128G>T	ENSP00000512062.1:n.1688-128G>T
ENST00000695623.1:c.1745-128G>T	ENSP00000512063.1:n.1745-128G>T
ENST00000695624.1:n.1056-128G>T
ENST00000695625.1:c.1751-128G>T	ENSP00000512064.1:n.1751-128G>T
ENST00000695626.1:c.506-128G>T	ENSP00000512065.1:n.506-128G>T
ENST00000695627.1:c.699-128G>T	ENSP00000512066.1:n.699-128G>T
ENST00000695628.1:c.310-128G>T	ENSP00000512067.1:n.310-128G>T
ENST00000695629.1:c.191-128G>T	ENSP00000512068.1:n.191-128G>T
ENST00000695630.1:c.478-128G>T
ENST00000695631.1:c.115-231G>T
ENST00000703407.1:c.1223-128G>T	ENSP00000512057.1:n.1223-128G>T
ENST00000308731.8:c.1751-128G>T MANE Select	ENSP00000308176.8:n.1751-128G>T
ENST00000308731.7:c.1751-128G>T	ENSP00000308176.7:n.1751-128G>T
ENST00000372880.5:c.1223-128G>T	ENSP00000361971.1:n.1223-128G>T
ENST00000470069.1:n.116-128G>T
ENST00000488970.1:n.353-128G>T
ENST00000618050.4:c.1750-128G>T	ENSP00000479125.1:n.1750-128G>T
ENST00000621635.4:c.1853-128G>T	ENSP00000483570.1:n.1853-128G>T
NM_000061.2:c.1751-128G>T , LRG_128t1:c.1751-128G>T	NP_000052.1:n.1751-128G>T
NM_001287344.1:c.1853-128G>T	NP_001274273.1:n.1853-128G>T
NM_001287345.1:c.1223-128G>T	NP_001274274.1:n.1223-128G>T
NM_000061.3:c.1751-128G>T MANE Select	NP_000052.1:n.1751-128G>T
NM_001287344.2:c.1853-128G>T	NP_001274273.1:n.1853-128G>T
NM_001287345.2:c.1223-128G>T	NP_001274274.1:n.1223-128G>T