Canonical Allele Identifier: CA413933897

Gene: BTK

Linked Data

• ClinVar Variation Id: 495528
• ClinVar RCV Id: RCV000587879
• dbSNP Id: rs1555978777
• MyVariant Identifiers: chrX:g.100617159A>T (hg19) ; chrX:g.101362171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101362171A>T , CM000685.2:g.101362171A>T	GRCh38
NC_000023.10:g.100617159A>T , CM000685.1:g.100617159A>T	GRCh37
NC_000023.9:g.100503815A>T	NCBI36
NG_009616.1:g.29054T>A , LRG_128:g.29054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.368+2T>A
ENST00000478995.2:n.748+2T>A
ENST00000488970.2:n.746+2T>A
ENST00000695614.1:c.588+2T>A	ENSP00000512053.1:n.588+2T>A
ENST00000695615.1:c.588+2T>A	ENSP00000512054.1:n.588+2T>A
ENST00000695616.1:c.*433+2T>A	ENSP00000512055.1:n.*433+2T>A
ENST00000695617.1:c.585+2T>A	ENSP00000512056.1:n.585+2T>A
ENST00000695618.1:c.*337+2T>A	ENSP00000512058.1:n.*337+2T>A
ENST00000695619.1:c.*433+2T>A	ENSP00000512059.1:n.*433+2T>A
ENST00000695620.1:c.*433+2T>A	ENSP00000512060.1:n.*433+2T>A
ENST00000695621.1:c.588+2T>A	ENSP00000512061.1:n.588+2T>A
ENST00000695622.1:c.588+2T>A	ENSP00000512062.1:n.588+2T>A
ENST00000695623.1:c.588+2T>A	ENSP00000512063.1:n.588+2T>A
ENST00000695625.1:c.588+2T>A	ENSP00000512064.1:n.588+2T>A
ENST00000703407.1:c.588+2T>A	ENSP00000512057.1:n.588+2T>A
ENST00000308731.8:c.588+2T>A MANE Select	ENSP00000308176.8:n.588+2T>A
ENST00000308731.7:c.588+2T>A	ENSP00000308176.7:n.588+2T>A
ENST00000372880.5:c.588+2T>A	ENSP00000361971.1:n.588+2T>A
ENST00000618050.4:c.588+2T>A	ENSP00000479125.1:n.588+2T>A
ENST00000621635.4:c.690+2T>A	ENSP00000483570.1:n.690+2T>A
NM_000061.2:c.588+2T>A , LRG_128t1:c.588+2T>A	NP_000052.1:n.588+2T>A
NM_001287344.1:c.690+2T>A	NP_001274273.1:n.690+2T>A
NM_001287345.1:c.588+2T>A	NP_001274274.1:n.588+2T>A
NM_000061.3:c.588+2T>A MANE Select	NP_000052.1:n.588+2T>A
NM_001287344.2:c.690+2T>A	NP_001274273.1:n.690+2T>A
NM_001287345.2:c.588+2T>A	NP_001274274.1:n.588+2T>A