Canonical Allele Identifier: CA413939330

Gene: BTK

Linked Data

• ClinVar Variation Id: 449226
• ClinVar RCV Id: RCV000521066 ; RCV000707368
• dbSNP Id: rs1555980875
• MyVariant Identifiers: chrX:g.100630154T>C (hg19) ; chrX:g.101375166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101375166T>C , CM000685.2:g.101375166T>C	GRCh38
NC_000023.10:g.100630154T>C , CM000685.1:g.100630154T>C	GRCh37
NC_000023.9:g.100516810T>C	NCBI36
NG_009616.1:g.16059A>G , LRG_128:g.16059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.279A>G
ENST00000488970.2:n.279A>G
ENST00000695614.1:c.119A>G	ENSP00000512053.1:p.Tyr40Cys
ENST00000695615.1:c.119A>G	ENSP00000512054.1:p.Tyr40Cys
ENST00000695616.1:c.119A>G	ENSP00000512055.1:p.Tyr40Cys
ENST00000695617.1:c.119A>G	ENSP00000512056.1:p.Tyr40Cys
ENST00000695618.1:c.119A>G	ENSP00000512058.1:p.Tyr40Cys
ENST00000695619.1:c.119A>G	ENSP00000512059.1:p.Tyr40Cys
ENST00000695620.1:c.119A>G	ENSP00000512060.1:p.Tyr40Cys
ENST00000695621.1:c.119A>G	ENSP00000512061.1:p.Tyr40Cys
ENST00000695622.1:c.119A>G	ENSP00000512062.1:p.Tyr40Cys
ENST00000695623.1:c.119A>G	ENSP00000512063.1:p.Tyr40Cys
ENST00000695625.1:c.119A>G	ENSP00000512064.1:p.Tyr40Cys
ENST00000695633.1:n.432A>G
ENST00000695643.1:c.119A>G	ENSP00000512078.1:p.Tyr40Cys
ENST00000703407.1:c.119A>G	ENSP00000512057.1:p.Tyr40Cys
ENST00000308731.8:c.119A>G MANE Select	ENSP00000308176.8:p.Tyr40Cys
ENST00000308731.7:c.119A>G	ENSP00000308176.7:p.Tyr40Cys
ENST00000372880.5:c.119A>G	ENSP00000361971.1:p.Tyr40Cys
ENST00000464567.1:n.236A>G
ENST00000618050.4:c.119A>G	ENSP00000479125.1:p.Tyr40Cys
ENST00000621635.4:c.221A>G	ENSP00000483570.1:p.Tyr74Cys
NM_000061.2:c.119A>G , LRG_128t1:c.119A>G	NP_000052.1:p.Tyr40Cys
NM_001287344.1:c.221A>G	NP_001274273.1:p.Tyr74Cys
NM_001287345.1:c.119A>G	NP_001274274.1:p.Tyr40Cys
NM_000061.3:c.119A>G MANE Select	NP_000052.1:p.Tyr40Cys
NM_001287344.2:c.221A>G	NP_001274273.1:p.Tyr74Cys
NM_001287345.2:c.119A>G	NP_001274274.1:p.Tyr40Cys