Canonical Allele Identifier: CA341086

Gene: BTK

Linked Data

• ClinVar Variation Id: 11354
• ClinVar RCV Id: RCV000012107 ; RCV003511977
• dbSNP Id: rs864321662
• MyVariant Identifiers: chrX:g.100625068C>G (hg19) ; chrX:g.101370080C>G (hg38)
• PubMed: PMID:7880320

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101370080C>G , CM000685.2:g.101370080C>G	GRCh38
NC_000023.10:g.100625068C>G , CM000685.1:g.100625068C>G	GRCh37
NC_000023.9:g.100511724C>G	NCBI36
NG_009616.1:g.21145G>C , LRG_128:g.21145G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.470-1G>C
ENST00000488970.2:n.468-1G>C
ENST00000695614.1:c.310-1G>C	ENSP00000512053.1:n.310-1G>C
ENST00000695615.1:c.310-1G>C	ENSP00000512054.1:n.310-1G>C
ENST00000695616.1:c.*155-1G>C	ENSP00000512055.1:n.*155-1G>C
ENST00000695617.1:c.307-1G>C	ENSP00000512056.1:n.307-1G>C
ENST00000695618.1:c.*59-1G>C	ENSP00000512058.1:n.*59-1G>C
ENST00000695619.1:c.*155-1G>C	ENSP00000512059.1:n.*155-1G>C
ENST00000695620.1:c.*155-1G>C	ENSP00000512060.1:n.*155-1G>C
ENST00000695621.1:c.310-1G>C	ENSP00000512061.1:n.310-1G>C
ENST00000695622.1:c.310-1G>C	ENSP00000512062.1:n.310-1G>C
ENST00000695623.1:c.310-1G>C	ENSP00000512063.1:n.310-1G>C
ENST00000695625.1:c.310-1G>C	ENSP00000512064.1:n.310-1G>C
ENST00000703407.1:c.310-1G>C	ENSP00000512057.1:n.310-1G>C
ENST00000308731.8:c.310-1G>C MANE Select	ENSP00000308176.8:n.310-1G>C
ENST00000308731.7:c.310-1G>C	ENSP00000308176.7:n.310-1G>C
ENST00000372880.5:c.310-1G>C	ENSP00000361971.1:n.310-1G>C
ENST00000618050.4:c.310-1G>C	ENSP00000479125.1:n.310-1G>C
ENST00000621635.4:c.412-1G>C	ENSP00000483570.1:n.412-1G>C
NM_000061.2:c.310-1G>C , LRG_128t1:c.310-1G>C	NP_000052.1:n.310-1G>C
NM_001287344.1:c.412-1G>C	NP_001274273.1:n.412-1G>C
NM_001287345.1:c.310-1G>C	NP_001274274.1:n.310-1G>C
NM_000061.3:c.310-1G>C MANE Select	NP_000052.1:n.310-1G>C
NM_001287344.2:c.412-1G>C	NP_001274273.1:n.412-1G>C
NM_001287345.2:c.310-1G>C	NP_001274274.1:n.310-1G>C