Canonical Allele Identifier: CA413929990

Gene: BTK

Linked Data

• ClinVar Variation Id: 1720518
• ClinVar RCV Id: RCV002298246
• MyVariant Identifiers: chrX:g.100614303G>T (hg19) ; chrX:g.101359315G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359315G>T , CM000685.2:g.101359315G>T	GRCh38
NC_000023.10:g.100614303G>T , CM000685.1:g.100614303G>T	GRCh37
NC_000023.9:g.100500959G>T	NCBI36
NG_009616.1:g.31910C>A , LRG_128:g.31910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.652C>A
ENST00000478995.2:n.1032C>A
ENST00000488970.2:n.1030C>A
ENST00000695614.1:c.872C>A	ENSP00000512053.1:p.Ala291Asp
ENST00000695615.1:c.872C>A	ENSP00000512054.1:p.Ala291Asp
ENST00000695616.1:c.*717C>A	ENSP00000512055.1:n.*717C>A
ENST00000695617.1:c.869C>A	ENSP00000512056.1:p.Ala290Asp
ENST00000695618.1:c.*621C>A	ENSP00000512058.1:n.*621C>A
ENST00000695619.1:c.*684+773C>A	ENSP00000512059.1:n.*684+773C>A
ENST00000695620.1:c.*717C>A	ENSP00000512060.1:n.*717C>A
ENST00000695621.1:c.872C>A	ENSP00000512061.1:p.Ala291Asp
ENST00000695622.1:c.809C>A	ENSP00000512062.1:p.Ala270Asp
ENST00000695623.1:c.866C>A	ENSP00000512063.1:p.Ala289Asp
ENST00000695624.1:n.177C>A
ENST00000695625.1:c.872C>A	ENSP00000512064.1:p.Ala291Asp
ENST00000703407.1:c.872C>A	ENSP00000512057.1:p.Ala291Asp
ENST00000308731.8:c.872C>A MANE Select	ENSP00000308176.8:p.Ala291Asp
ENST00000308731.7:c.872C>A	ENSP00000308176.7:p.Ala291Asp
ENST00000372880.5:c.872C>A	ENSP00000361971.1:p.Ala291Asp
ENST00000618050.4:c.872C>A	ENSP00000479125.1:p.Ala291Asp
ENST00000621635.4:c.974C>A	ENSP00000483570.1:p.Ala325Asp
NM_000061.2:c.872C>A , LRG_128t1:c.872C>A	NP_000052.1:p.Ala291Asp
NM_001287344.1:c.974C>A	NP_001274273.1:p.Ala325Asp
NM_001287345.1:c.872C>A	NP_001274274.1:p.Ala291Asp
NM_000061.3:c.872C>A MANE Select	NP_000052.1:p.Ala291Asp
NM_001287344.2:c.974C>A	NP_001274273.1:p.Ala325Asp
NM_001287345.2:c.872C>A	NP_001274274.1:p.Ala291Asp