Canonical Allele Identifier: CA260195

Gene: BTK

Linked Data

• ClinVar Variation Id: 35762
• ClinVar RCV Id: RCV000029414 ; RCV001055502
• dbSNP Id: rs193922129
• MyVariant Identifiers: chrX:g.100615140T>C (hg19) ; chrX:g.101360152T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360152T>C , CM000685.2:g.101360152T>C	GRCh38
NC_000023.10:g.100615140T>C , CM000685.1:g.100615140T>C	GRCh37
NC_000023.9:g.100501796T>C	NCBI36
NG_009616.1:g.31073A>G , LRG_128:g.31073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.557-2A>G
ENST00000478995.2:n.937-2A>G
ENST00000488970.2:n.935-2A>G
ENST00000695614.1:c.777-2A>G	ENSP00000512053.1:n.777-2A>G
ENST00000695615.1:c.777-2A>G	ENSP00000512054.1:n.777-2A>G
ENST00000695616.1:c.*622-2A>G	ENSP00000512055.1:n.*622-2A>G
ENST00000695617.1:c.774-2A>G	ENSP00000512056.1:n.774-2A>G
ENST00000695618.1:c.*526-2A>G	ENSP00000512058.1:n.*526-2A>G
ENST00000695619.1:c.*622-2A>G	ENSP00000512059.1:n.*622-2A>G
ENST00000695620.1:c.*622-2A>G	ENSP00000512060.1:n.*622-2A>G
ENST00000695621.1:c.777-2A>G	ENSP00000512061.1:n.777-2A>G
ENST00000695622.1:c.776+416A>G	ENSP00000512062.1:n.776+416A>G
ENST00000695623.1:c.777-2A>G	ENSP00000512063.1:n.777-2A>G
ENST00000695624.1:n.80A>G
ENST00000695625.1:c.777-2A>G	ENSP00000512064.1:n.777-2A>G
ENST00000703407.1:c.777-2A>G	ENSP00000512057.1:n.777-2A>G
ENST00000308731.8:c.777-2A>G MANE Select	ENSP00000308176.8:n.777-2A>G
ENST00000308731.7:c.777-2A>G	ENSP00000308176.7:n.777-2A>G
ENST00000372880.5:c.777-2A>G	ENSP00000361971.1:n.777-2A>G
ENST00000618050.4:c.777-2A>G	ENSP00000479125.1:n.777-2A>G
ENST00000621635.4:c.879-2A>G	ENSP00000483570.1:n.879-2A>G
NM_000061.2:c.777-2A>G , LRG_128t1:c.777-2A>G	NP_000052.1:n.777-2A>G
NM_001287344.1:c.879-2A>G	NP_001274273.1:n.879-2A>G
NM_001287345.1:c.777-2A>G	NP_001274274.1:n.777-2A>G
NM_000061.3:c.777-2A>G MANE Select	NP_000052.1:n.777-2A>G
NM_001287344.2:c.879-2A>G	NP_001274273.1:n.879-2A>G
NM_001287345.2:c.777-2A>G	NP_001274274.1:n.777-2A>G