Canonical Allele Identifier: CA413930371

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100614333C>G (hg19) ; chrX:g.101359345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359345C>G , CM000685.2:g.101359345C>G	GRCh38
NC_000023.10:g.100614333C>G , CM000685.1:g.100614333C>G	GRCh37
NC_000023.9:g.100500989C>G	NCBI36
NG_009616.1:g.31880G>C , LRG_128:g.31880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.622G>C
ENST00000478995.2:n.1002G>C
ENST00000488970.2:n.1000G>C
ENST00000695614.1:c.842G>C	ENSP00000512053.1:p.Trp281Ser
ENST00000695615.1:c.842G>C	ENSP00000512054.1:p.Trp281Ser
ENST00000695616.1:c.*687G>C	ENSP00000512055.1:n.*687G>C
ENST00000695617.1:c.839G>C	ENSP00000512056.1:p.Trp280Ser
ENST00000695618.1:c.*591G>C	ENSP00000512058.1:n.*591G>C
ENST00000695619.1:c.*684+743G>C	ENSP00000512059.1:n.*684+743G>C
ENST00000695620.1:c.*687G>C	ENSP00000512060.1:n.*687G>C
ENST00000695621.1:c.842G>C	ENSP00000512061.1:p.Trp281Ser
ENST00000695622.1:c.779G>C	ENSP00000512062.1:p.Trp260Ser
ENST00000695623.1:c.836G>C	ENSP00000512063.1:p.Trp279Ser
ENST00000695624.1:n.147G>C
ENST00000695625.1:c.842G>C	ENSP00000512064.1:p.Trp281Ser
ENST00000703407.1:c.842G>C	ENSP00000512057.1:p.Trp281Ser
ENST00000308731.8:c.842G>C MANE Select	ENSP00000308176.8:p.Trp281Ser
ENST00000308731.7:c.842G>C	ENSP00000308176.7:p.Trp281Ser
ENST00000372880.5:c.842G>C	ENSP00000361971.1:p.Trp281Ser
ENST00000618050.4:c.842G>C	ENSP00000479125.1:p.Trp281Ser
ENST00000621635.4:c.944G>C	ENSP00000483570.1:p.Trp315Ser
NM_000061.2:c.842G>C , LRG_128t1:c.842G>C	NP_000052.1:p.Trp281Ser
NM_001287344.1:c.944G>C	NP_001274273.1:p.Trp315Ser
NM_001287345.1:c.842G>C	NP_001274274.1:p.Trp281Ser
NM_000061.3:c.842G>C MANE Select	NP_000052.1:p.Trp281Ser
NM_001287344.2:c.944G>C	NP_001274273.1:p.Trp315Ser
NM_001287345.2:c.842G>C	NP_001274274.1:p.Trp281Ser