Canonical Allele Identifier: CA10473085

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358637A>G , CM000685.2:g.101358637A>G	GRCh38
NC_000023.10:g.100613625A>G , CM000685.1:g.100613625A>G	GRCh37
NC_000023.9:g.100500281A>G	NCBI36
NG_009616.1:g.32588T>C , LRG_128:g.32588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.734T>C
ENST00000478995.2:n.1114T>C
ENST00000488970.2:n.1112T>C
ENST00000695614.1:c.954T>C	ENSP00000512053.1:p.Ser318=
ENST00000695615.1:c.954T>C	ENSP00000512054.1:p.Ser318=
ENST00000695616.1:c.*799T>C	ENSP00000512055.1:n.*799T>C
ENST00000695617.1:c.951T>C	ENSP00000512056.1:p.Ser317=
ENST00000695618.1:c.*703T>C	ENSP00000512058.1:n.*703T>C
ENST00000695619.1:c.*685-200T>C	ENSP00000512059.1:n.*685-200T>C
ENST00000695620.1:c.*799T>C	ENSP00000512060.1:n.*799T>C
ENST00000695621.1:c.954T>C	ENSP00000512061.1:p.Ser318=
ENST00000695622.1:c.891T>C	ENSP00000512062.1:p.Ser297=
ENST00000695623.1:c.948T>C	ENSP00000512063.1:p.Ser316=
ENST00000695624.1:n.259T>C
ENST00000695625.1:c.954T>C	ENSP00000512064.1:p.Ser318=
ENST00000703407.1:c.954T>C	ENSP00000512057.1:p.Ser318=
ENST00000308731.8:c.954T>C MANE Select	ENSP00000308176.8:p.Ser318=
ENST00000308731.7:c.954T>C	ENSP00000308176.7:p.Ser318=
ENST00000372880.5:c.954T>C	ENSP00000361971.1:p.Ser318=
ENST00000618050.4:c.954T>C	ENSP00000479125.1:p.Ser318=
ENST00000621635.4:c.1056T>C	ENSP00000483570.1:p.Ser352=
NM_000061.2:c.954T>C , LRG_128t1:c.954T>C	NP_000052.1:p.Ser318=
NM_001287344.1:c.1056T>C	NP_001274273.1:p.Ser352=
NM_001287345.1:c.954T>C	NP_001274274.1:p.Ser318=
NM_000061.3:c.954T>C MANE Select	NP_000052.1:p.Ser318=
NM_001287344.2:c.1056T>C	NP_001274273.1:p.Ser352=
NM_001287345.2:c.954T>C	NP_001274274.1:p.Ser318=