Canonical Allele Identifier: CA2694295380

Gene: BTK

Linked Data

• gnomAD v4: X-101353489-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353489G>T , CM000685.2:g.101353489G>T	GRCh38
NC_000023.10:g.100608477G>T , CM000685.1:g.100608477G>T	GRCh37
NC_000023.9:g.100495133G>T	NCBI36
NG_009616.1:g.37736C>A , LRG_128:g.37736C>A
NG_011734.1:g.481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268-138C>A
ENST00000488970.2:n.3907-138C>A
ENST00000695614.1:c.1751-138C>A	ENSP00000512053.1:n.1751-138C>A
ENST00000695615.1:c.1751-138C>A	ENSP00000512054.1:n.1751-138C>A
ENST00000695616.1:c.*1596-138C>A	ENSP00000512055.1:n.*1596-138C>A
ENST00000695617.1:c.1748-138C>A	ENSP00000512056.1:n.1748-138C>A
ENST00000695618.1:c.*1500-138C>A	ENSP00000512058.1:n.*1500-138C>A
ENST00000695619.1:c.*1461-138C>A	ENSP00000512059.1:n.*1461-138C>A
ENST00000695620.1:c.*1677-138C>A	ENSP00000512060.1:n.*1677-138C>A
ENST00000695621.1:c.*176-138C>A	ENSP00000512061.1:n.*176-138C>A
ENST00000695622.1:c.1688-138C>A	ENSP00000512062.1:n.1688-138C>A
ENST00000695623.1:c.1745-138C>A	ENSP00000512063.1:n.1745-138C>A
ENST00000695624.1:n.1056-138C>A
ENST00000695625.1:c.1751-138C>A	ENSP00000512064.1:n.1751-138C>A
ENST00000695626.1:c.506-138C>A	ENSP00000512065.1:n.506-138C>A
ENST00000695627.1:c.699-138C>A	ENSP00000512066.1:n.699-138C>A
ENST00000695628.1:c.310-138C>A	ENSP00000512067.1:n.310-138C>A
ENST00000695629.1:c.191-138C>A	ENSP00000512068.1:n.191-138C>A
ENST00000695630.1:c.478-138C>A
ENST00000695631.1:c.115-241C>A
ENST00000703407.1:c.1223-138C>A	ENSP00000512057.1:n.1223-138C>A
ENST00000308731.8:c.1751-138C>A MANE Select	ENSP00000308176.8:n.1751-138C>A
ENST00000308731.7:c.1751-138C>A	ENSP00000308176.7:n.1751-138C>A
ENST00000372880.5:c.1223-138C>A	ENSP00000361971.1:n.1223-138C>A
ENST00000470069.1:n.116-138C>A
ENST00000488970.1:n.353-138C>A
ENST00000618050.4:c.1750-138C>A	ENSP00000479125.1:n.1750-138C>A
ENST00000621635.4:c.1853-138C>A	ENSP00000483570.1:n.1853-138C>A
NM_000061.2:c.1751-138C>A , LRG_128t1:c.1751-138C>A	NP_000052.1:n.1751-138C>A
NM_001287344.1:c.1853-138C>A	NP_001274273.1:n.1853-138C>A
NM_001287345.1:c.1223-138C>A	NP_001274274.1:n.1223-138C>A
NM_000061.3:c.1751-138C>A MANE Select	NP_000052.1:n.1751-138C>A
NM_001287344.2:c.1853-138C>A	NP_001274273.1:n.1853-138C>A
NM_001287345.2:c.1223-138C>A	NP_001274274.1:n.1223-138C>A