Canonical Allele Identifier: CA2822685214

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349817T>G , CM000685.2:g.101349817T>G	GRCh38
NC_000023.10:g.100604805T>G , CM000685.1:g.100604805T>G	GRCh37
NC_000023.9:g.100491461T>G	NCBI36
NG_009616.1:g.41408A>C , LRG_128:g.41408A>C
NG_011734.1:g.4153A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3565A>C
ENST00000488970.2:n.4204A>C
ENST00000695614.1:c.*68A>C	ENSP00000512053.1:n.*68A>C
ENST00000695615.1:c.*68A>C	ENSP00000512054.1:n.*68A>C
ENST00000695616.1:c.*1893A>C	ENSP00000512055.1:n.*1893A>C
ENST00000695617.1:c.*68A>C	ENSP00000512056.1:n.*68A>C
ENST00000695618.1:c.*1797A>C	ENSP00000512058.1:n.*1797A>C
ENST00000695619.1:c.*1758A>C	ENSP00000512059.1:n.*1758A>C
ENST00000695620.1:c.*1974A>C	ENSP00000512060.1:n.*1974A>C
ENST00000695621.1:c.*473A>C	ENSP00000512061.1:n.*473A>C
ENST00000695622.1:c.*68A>C	ENSP00000512062.1:n.*68A>C
ENST00000695623.1:c.*68A>C	ENSP00000512063.1:n.*68A>C
ENST00000695624.1:n.1353A>C
ENST00000695625.1:c.*68A>C	ENSP00000512064.1:n.*68A>C
ENST00000695626.1:c.803A>C	ENSP00000512065.1:n.803A>C
ENST00000695627.1:c.996A>C	ENSP00000512066.1:n.996A>C
ENST00000695628.1:c.607A>C	ENSP00000512067.1:n.607A>C
ENST00000695629.1:c.488A>C	ENSP00000512068.1:n.488A>C
ENST00000703407.1:c.*68A>C	ENSP00000512057.1:n.*68A>C
ENST00000308731.8:c.*68A>C MANE Select	ENSP00000308176.8:n.*68A>C
ENST00000308731.7:c.*68A>C	ENSP00000308176.7:n.*68A>C
ENST00000372880.5:c.*68A>C	ENSP00000361971.1:n.*68A>C
ENST00000618050.4:c.2047A>C	ENSP00000479125.1:n.2047A>C
ENST00000621635.4:c.*68A>C	ENSP00000483570.1:n.*68A>C
NM_000061.2:c.*68A>C , LRG_128t1:c.*68A>C	NP_000052.1:n.*68A>C
NM_001287344.1:c.*68A>C	NP_001274273.1:n.*68A>C
NM_001287345.1:c.*68A>C	NP_001274274.1:n.*68A>C
NM_000061.3:c.*68A>C MANE Select	NP_000052.1:n.*68A>C
NM_001287344.2:c.*68A>C	NP_001274273.1:n.*68A>C
NM_001287345.2:c.*68A>C	NP_001274274.1:n.*68A>C