Canonical Allele Identifier: CA413939206

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100630130A>C (hg19) ; chrX:g.101375142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101375142A>C , CM000685.2:g.101375142A>C	GRCh38
NC_000023.10:g.100630130A>C , CM000685.1:g.100630130A>C	GRCh37
NC_000023.9:g.100516786A>C	NCBI36
NG_009616.1:g.16083T>G , LRG_128:g.16083T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.301+2T>G
ENST00000488970.2:n.301+2T>G
ENST00000695614.1:c.141+2T>G	ENSP00000512053.1:n.141+2T>G
ENST00000695615.1:c.141+2T>G	ENSP00000512054.1:n.141+2T>G
ENST00000695616.1:c.141+2T>G	ENSP00000512055.1:n.141+2T>G
ENST00000695617.1:c.143T>G	ENSP00000512056.1:p.Val48Gly
ENST00000695618.1:c.141+2T>G	ENSP00000512058.1:n.141+2T>G
ENST00000695619.1:c.141+2T>G	ENSP00000512059.1:n.141+2T>G
ENST00000695620.1:c.141+2T>G	ENSP00000512060.1:n.141+2T>G
ENST00000695621.1:c.141+2T>G	ENSP00000512061.1:n.141+2T>G
ENST00000695622.1:c.141+2T>G	ENSP00000512062.1:n.141+2T>G
ENST00000695623.1:c.141+2T>G	ENSP00000512063.1:n.141+2T>G
ENST00000695625.1:c.141+2T>G	ENSP00000512064.1:n.141+2T>G
ENST00000695633.1:n.454+2T>G
ENST00000695643.1:c.141+2T>G	ENSP00000512078.1:n.141+2T>G
ENST00000703407.1:c.141+2T>G	ENSP00000512057.1:n.141+2T>G
ENST00000308731.8:c.141+2T>G MANE Select	ENSP00000308176.8:n.141+2T>G
ENST00000308731.7:c.141+2T>G	ENSP00000308176.7:n.141+2T>G
ENST00000372880.5:c.141+2T>G	ENSP00000361971.1:n.141+2T>G
ENST00000464567.1:n.258+2T>G
ENST00000618050.4:c.141+2T>G	ENSP00000479125.1:n.141+2T>G
ENST00000621635.4:c.243+2T>G	ENSP00000483570.1:n.243+2T>G
NM_000061.2:c.141+2T>G , LRG_128t1:c.141+2T>G	NP_000052.1:n.141+2T>G
NM_001287344.1:c.243+2T>G	NP_001274273.1:n.243+2T>G
NM_001287345.1:c.141+2T>G	NP_001274274.1:n.141+2T>G
NM_000061.3:c.141+2T>G MANE Select	NP_000052.1:n.141+2T>G
NM_001287344.2:c.243+2T>G	NP_001274273.1:n.243+2T>G
NM_001287345.2:c.141+2T>G	NP_001274274.1:n.141+2T>G