Canonical Allele Identifier: CA255812
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 11366
ClinVar RCV Id: RCV000012119 RCV000768159 RCV001384086 RCV001701564
dbSNP Id: rs128621194
MyVariant Identifiers: chrX:g.100614313G>A (hg19) chrX:g.101359325G>A (hg38)
PubMed: PMID:8162018
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101359325G>A , CM000685.2:g.101359325G>A GRCh38
NC_000023.10:g.100614313G>A , CM000685.1:g.100614313G>A GRCh37
NC_000023.9:g.100500969G>A NCBI36
NG_009616.1:g.31900C>T , LRG_128:g.31900C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000464006.2:n.642C>T
ENST00000478995.2:n.1022C>T
ENST00000488970.2:n.1020C>T
ENST00000695614.1:c.862C>T ENSP00000512053.1:p.Arg288Trp
ENST00000695615.1:c.862C>T ENSP00000512054.1:p.Arg288Trp
ENST00000695616.1:c.*707C>T ENSP00000512055.1:n.*707C>T
ENST00000695617.1:c.859C>T ENSP00000512056.1:p.Arg287Trp
ENST00000695618.1:c.*611C>T ENSP00000512058.1:n.*611C>T
ENST00000695619.1:c.*684+763C>T ENSP00000512059.1:n.*684+763C>T
ENST00000695620.1:c.*707C>T ENSP00000512060.1:n.*707C>T
ENST00000695621.1:c.862C>T ENSP00000512061.1:p.Arg288Trp
ENST00000695622.1:c.799C>T ENSP00000512062.1:p.Arg267Trp
ENST00000695623.1:c.856C>T ENSP00000512063.1:p.Arg286Trp
ENST00000695624.1:n.167C>T
ENST00000695625.1:c.862C>T ENSP00000512064.1:p.Arg288Trp
ENST00000703407.1:c.862C>T ENSP00000512057.1:p.Arg288Trp
ENST00000308731.8:c.862C>T MANE Select ENSP00000308176.8:p.Arg288Trp
ENST00000308731.7:c.862C>T ENSP00000308176.7:p.Arg288Trp
ENST00000372880.5:c.862C>T ENSP00000361971.1:p.Arg288Trp
ENST00000618050.4:c.862C>T ENSP00000479125.1:p.Arg288Trp
ENST00000621635.4:c.964C>T ENSP00000483570.1:p.Arg322Trp
NM_000061.2:c.862C>T , LRG_128t1:c.862C>T NP_000052.1:p.Arg288Trp
NM_001287344.1:c.964C>T NP_001274273.1:p.Arg322Trp
NM_001287345.1:c.862C>T NP_001274274.1:p.Arg288Trp
NM_000061.3:c.862C>T MANE Select NP_000052.1:p.Arg288Trp
NM_001287344.2:c.964C>T NP_001274273.1:p.Arg322Trp
NM_001287345.2:c.862C>T NP_001274274.1:p.Arg288Trp
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