Canonical Allele Identifier: CA255791
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 11345
ClinVar RCV Id: RCV000012098 RCV001027550 RCV002512977
dbSNP Id: rs128620188
MyVariant Identifiers: chrX:g.100630230G>A (hg19) chrX:g.101375242G>A (hg38)
PubMed: PMID:7849697
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101375242G>A , CM000685.2:g.101375242G>A GRCh38
NC_000023.10:g.100630230G>A , CM000685.1:g.100630230G>A GRCh37
NC_000023.9:g.100516886G>A NCBI36
NG_009616.1:g.15983C>T , LRG_128:g.15983C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.203C>T
ENST00000488970.2:n.203C>T
ENST00000695614.1:c.43C>T ENSP00000512053.1:p.Gln15Ter
ENST00000695615.1:c.43C>T ENSP00000512054.1:p.Gln15Ter
ENST00000695616.1:c.43C>T ENSP00000512055.1:p.Gln15Ter
ENST00000695617.1:c.43C>T ENSP00000512056.1:p.Gln15Ter
ENST00000695618.1:c.43C>T ENSP00000512058.1:p.Gln15Ter
ENST00000695619.1:c.43C>T ENSP00000512059.1:p.Gln15Ter
ENST00000695620.1:c.43C>T ENSP00000512060.1:p.Gln15Ter
ENST00000695621.1:c.43C>T ENSP00000512061.1:p.Gln15Ter
ENST00000695622.1:c.43C>T ENSP00000512062.1:p.Gln15Ter
ENST00000695623.1:c.43C>T ENSP00000512063.1:p.Gln15Ter
ENST00000695625.1:c.43C>T ENSP00000512064.1:p.Gln15Ter
ENST00000695633.1:n.356C>T
ENST00000695643.1:c.43C>T ENSP00000512078.1:p.Gln15Ter
ENST00000703407.1:c.43C>T ENSP00000512057.1:p.Gln15Ter
ENST00000308731.8:c.43C>T MANE Select ENSP00000308176.8:p.Gln15Ter
ENST00000308731.7:c.43C>T ENSP00000308176.7:p.Gln15Ter
ENST00000372880.5:c.43C>T ENSP00000361971.1:p.Gln15Ter
ENST00000464567.1:n.160C>T
ENST00000618050.4:c.43C>T ENSP00000479125.1:p.Gln15Ter
ENST00000621635.4:c.145C>T ENSP00000483570.1:p.Gln49Ter
NM_000061.2:c.43C>T , LRG_128t1:c.43C>T NP_000052.1:p.Gln15Ter
NM_001287344.1:c.145C>T NP_001274273.1:p.Gln49Ter
NM_001287345.1:c.43C>T NP_001274274.1:p.Gln15Ter
NM_000061.3:c.43C>T MANE Select NP_000052.1:p.Gln15Ter
NM_001287344.2:c.145C>T NP_001274273.1:p.Gln49Ter
NM_001287345.2:c.43C>T NP_001274274.1:p.Gln15Ter
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