Canonical Allele Identifier: CA413930030

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100614308A>C (hg19) ; chrX:g.101359320A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359320A>C , CM000685.2:g.101359320A>C	GRCh38
NC_000023.10:g.100614308A>C , CM000685.1:g.100614308A>C	GRCh37
NC_000023.9:g.100500964A>C	NCBI36
NG_009616.1:g.31905T>G , LRG_128:g.31905T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.647T>G
ENST00000478995.2:n.1027T>G
ENST00000488970.2:n.1025T>G
ENST00000695614.1:c.867T>G	ENSP00000512053.1:p.Ser289Arg
ENST00000695615.1:c.867T>G	ENSP00000512054.1:p.Ser289Arg
ENST00000695616.1:c.*712T>G	ENSP00000512055.1:n.*712T>G
ENST00000695617.1:c.864T>G	ENSP00000512056.1:p.Ser288Arg
ENST00000695618.1:c.*616T>G	ENSP00000512058.1:n.*616T>G
ENST00000695619.1:c.*684+768T>G	ENSP00000512059.1:n.*684+768T>G
ENST00000695620.1:c.*712T>G	ENSP00000512060.1:n.*712T>G
ENST00000695621.1:c.867T>G	ENSP00000512061.1:p.Ser289Arg
ENST00000695622.1:c.804T>G	ENSP00000512062.1:p.Ser268Arg
ENST00000695623.1:c.861T>G	ENSP00000512063.1:p.Ser287Arg
ENST00000695624.1:n.172T>G
ENST00000695625.1:c.867T>G	ENSP00000512064.1:p.Ser289Arg
ENST00000703407.1:c.867T>G	ENSP00000512057.1:p.Ser289Arg
ENST00000308731.8:c.867T>G MANE Select	ENSP00000308176.8:p.Ser289Arg
ENST00000308731.7:c.867T>G	ENSP00000308176.7:p.Ser289Arg
ENST00000372880.5:c.867T>G	ENSP00000361971.1:p.Ser289Arg
ENST00000618050.4:c.867T>G	ENSP00000479125.1:p.Ser289Arg
ENST00000621635.4:c.969T>G	ENSP00000483570.1:p.Ser323Arg
NM_000061.2:c.867T>G , LRG_128t1:c.867T>G	NP_000052.1:p.Ser289Arg
NM_001287344.1:c.969T>G	NP_001274273.1:p.Ser323Arg
NM_001287345.1:c.867T>G	NP_001274274.1:p.Ser289Arg
NM_000061.3:c.867T>G MANE Select	NP_000052.1:p.Ser289Arg
NM_001287344.2:c.969T>G	NP_001274273.1:p.Ser323Arg
NM_001287345.2:c.867T>G	NP_001274274.1:p.Ser289Arg