Canonical Allele Identifier: CA10588731
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 265060
ClinVar RCV Id: RCV000255772
dbSNP Id: rs886039321

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353342A>G , CM000685.2:g.101353342A>G GRCh38
NC_000023.10:g.100608330A>G , CM000685.1:g.100608330A>G GRCh37
NC_000023.9:g.100494986A>G NCBI36
NG_009616.1:g.37883T>C , LRG_128:g.37883T>C
NG_011734.1:g.628T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3277T>C
ENST00000488970.2:n.3916T>C
ENST00000695614.1:c.1760T>C ENSP00000512053.1:p.Met587Thr
ENST00000695615.1:c.1760T>C ENSP00000512054.1:p.Met587Thr
ENST00000695616.1:c.*1605T>C ENSP00000512055.1:n.*1605T>C
ENST00000695617.1:c.1757T>C ENSP00000512056.1:p.Met586Thr
ENST00000695618.1:c.*1509T>C ENSP00000512058.1:n.*1509T>C
ENST00000695619.1:c.*1470T>C ENSP00000512059.1:n.*1470T>C
ENST00000695620.1:c.*1686T>C ENSP00000512060.1:n.*1686T>C
ENST00000695621.1:c.*185T>C ENSP00000512061.1:n.*185T>C
ENST00000695622.1:c.1697T>C ENSP00000512062.1:p.Met566Thr
ENST00000695623.1:c.1754T>C ENSP00000512063.1:p.Met585Thr
ENST00000695624.1:n.1065T>C
ENST00000695625.1:c.1760T>C ENSP00000512064.1:p.Met587Thr
ENST00000695626.1:c.515T>C ENSP00000512065.1:n.515T>C
ENST00000695627.1:c.708T>C ENSP00000512066.1:n.708T>C
ENST00000695628.1:c.319T>C ENSP00000512067.1:n.319T>C
ENST00000695629.1:c.200T>C ENSP00000512068.1:p.Met67Thr
ENST00000695630.1:c.487T>C
ENST00000695631.1:c.115-94T>C
ENST00000703407.1:c.1232T>C ENSP00000512057.1:p.Met411Thr
ENST00000308731.8:c.1760T>C MANE Select ENSP00000308176.8:p.Met587Thr
ENST00000308731.7:c.1760T>C ENSP00000308176.7:p.Met587Thr
ENST00000372880.5:c.1232T>C ENSP00000361971.1:p.Met411Thr
ENST00000470069.1:n.125T>C
ENST00000488970.1:n.362T>C
ENST00000618050.4:c.1759T>C ENSP00000479125.1:n.1759T>C
ENST00000621635.4:c.1862T>C ENSP00000483570.1:p.Met621Thr
NM_000061.2:c.1760T>C , LRG_128t1:c.1760T>C NP_000052.1:p.Met587Thr
NM_001287344.1:c.1862T>C NP_001274273.1:p.Met621Thr
NM_001287345.1:c.1232T>C NP_001274274.1:p.Met411Thr
NM_000061.3:c.1760T>C MANE Select NP_000052.1:p.Met587Thr
NM_001287344.2:c.1862T>C NP_001274273.1:p.Met621Thr
NM_001287345.2:c.1232T>C NP_001274274.1:p.Met411Thr