Canonical Allele Identifier: CA16608652
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 379478
ClinVar RCV Id: RCV000424404
dbSNP Id: rs1057520612
MyVariant Identifiers: chrX:g.100615663A>T (hg19) chrX:g.101360675A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101360675A>T , CM000685.2:g.101360675A>T GRCh38
NC_000023.10:g.100615663A>T , CM000685.1:g.100615663A>T GRCh37
NC_000023.9:g.100502319A>T NCBI36
NG_009616.1:g.30550T>A , LRG_128:g.30550T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000464006.2:n.449T>A
ENST00000478995.2:n.829T>A
ENST00000488970.2:n.827T>A
ENST00000695614.1:c.669T>A ENSP00000512053.1:p.Tyr223Ter
ENST00000695615.1:c.669T>A ENSP00000512054.1:p.Tyr223Ter
ENST00000695616.1:c.*514T>A ENSP00000512055.1:n.*514T>A
ENST00000695617.1:c.666T>A ENSP00000512056.1:p.Tyr222Ter
ENST00000695618.1:c.*418T>A ENSP00000512058.1:n.*418T>A
ENST00000695619.1:c.*514T>A ENSP00000512059.1:n.*514T>A
ENST00000695620.1:c.*514T>A ENSP00000512060.1:n.*514T>A
ENST00000695621.1:c.669T>A ENSP00000512061.1:p.Tyr223Ter
ENST00000695622.1:c.669T>A ENSP00000512062.1:p.Tyr223Ter
ENST00000695623.1:c.669T>A ENSP00000512063.1:p.Tyr223Ter
ENST00000695625.1:c.669T>A ENSP00000512064.1:p.Tyr223Ter
ENST00000703407.1:c.669T>A ENSP00000512057.1:p.Tyr223Ter
ENST00000308731.8:c.669T>A MANE Select ENSP00000308176.8:p.Tyr223Ter
ENST00000308731.7:c.669T>A ENSP00000308176.7:p.Tyr223Ter
ENST00000372880.5:c.669T>A ENSP00000361971.1:p.Tyr223Ter
ENST00000618050.4:c.669T>A ENSP00000479125.1:p.Tyr223Ter
ENST00000621635.4:c.771T>A ENSP00000483570.1:p.Tyr257Ter
NM_000061.2:c.669T>A , LRG_128t1:c.669T>A NP_000052.1:p.Tyr223Ter
NM_001287344.1:c.771T>A NP_001274273.1:p.Tyr257Ter
NM_001287345.1:c.669T>A NP_001274274.1:p.Tyr223Ter
NM_000061.3:c.669T>A MANE Select NP_000052.1:p.Tyr223Ter
NM_001287344.2:c.771T>A NP_001274273.1:p.Tyr257Ter
NM_001287345.2:c.669T>A NP_001274274.1:p.Tyr223Ter
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