Canonical Allele Identifier: CA255786
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 11343
ClinVar RCV Id: RCV000012096
dbSNP Id: rs128620184
MyVariant Identifiers: chrX:g.100611833T>C (hg19) chrX:g.101356845T>C (hg38)
PubMed: PMID:8380905 PMID:22442492
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356845T>C , CM000685.2:g.101356845T>C GRCh38
NC_000023.10:g.100611833T>C , CM000685.1:g.100611833T>C GRCh37
NC_000023.9:g.100498489T>C NCBI36
NG_009616.1:g.34380A>G , LRG_128:g.34380A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.1448A>G
ENST00000488970.2:n.1446A>G
ENST00000695614.1:c.1288A>G ENSP00000512053.1:p.Lys430Glu
ENST00000695615.1:c.1288A>G ENSP00000512054.1:p.Lys430Glu
ENST00000695616.1:c.*1133A>G ENSP00000512055.1:n.*1133A>G
ENST00000695617.1:c.1285A>G ENSP00000512056.1:p.Lys429Glu
ENST00000695618.1:c.*1037A>G ENSP00000512058.1:n.*1037A>G
ENST00000695619.1:c.*998A>G ENSP00000512059.1:n.*998A>G
ENST00000695620.1:c.*1133A>G ENSP00000512060.1:n.*1133A>G
ENST00000695621.1:c.1288A>G ENSP00000512061.1:p.Lys430Glu
ENST00000695622.1:c.1225A>G ENSP00000512062.1:p.Lys409Glu
ENST00000695623.1:c.1282A>G ENSP00000512063.1:p.Lys428Glu
ENST00000695624.1:n.593A>G
ENST00000695625.1:c.1288A>G ENSP00000512064.1:p.Lys430Glu
ENST00000695626.1:c.260A>G ENSP00000512065.1:p.Gln87Arg
ENST00000695627.1:c.301A>G ENSP00000512066.1:p.Lys101Glu
ENST00000695628.1:c.190+664A>G ENSP00000512067.1:n.190+664A>G
ENST00000695629.1:c.190+664A>G ENSP00000512068.1:n.190+664A>G
ENST00000695630.1:c.297A>G
ENST00000695631.1:c.114+1465A>G
ENST00000695632.1:n.305A>G
ENST00000703407.1:c.1038+1529A>G ENSP00000512057.1:n.1038+1529A>G
ENST00000308731.8:c.1288A>G MANE Select ENSP00000308176.8:p.Lys430Glu
ENST00000308731.7:c.1288A>G ENSP00000308176.7:p.Lys430Glu
ENST00000372880.5:c.1038+1529A>G ENSP00000361971.1:n.1038+1529A>G
ENST00000470329.1:n.238A>G
ENST00000618050.4:c.1288A>G ENSP00000479125.1:p.Lys430Glu
ENST00000621635.4:c.1390A>G ENSP00000483570.1:p.Lys464Glu
NM_000061.2:c.1288A>G , LRG_128t1:c.1288A>G NP_000052.1:p.Lys430Glu
NM_001287344.1:c.1390A>G NP_001274273.1:p.Lys464Glu
NM_001287345.1:c.1038+1529A>G NP_001274274.1:n.1038+1529A>G
NM_000061.3:c.1288A>G MANE Select NP_000052.1:p.Lys430Glu
NM_001287344.2:c.1390A>G NP_001274273.1:p.Lys464Glu
NM_001287345.2:c.1038+1529A>G NP_001274274.1:n.1038+1529A>G
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