Canonical Allele Identifier: CA413921657
Community Standard Title: NM_000061.3(BTK):c.1632G>C (p.Arg544Ser)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353988C>G , CM000685.2:g.101353988C>G GRCh38
NC_000023.10:g.100608976C>G , CM000685.1:g.100608976C>G GRCh37
NC_000023.9:g.100495632C>G NCBI36
NG_009616.1:g.37237G>C , LRG_128:g.37237G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1632G>C MANE Select NP_000052.1:p.Arg544Ser
ENST00000308731.8:c.1632G>C MANE Select ENSP00000308176.8:p.Arg544Ser
NM_000061.2:c.1632G>C , LRG_128t1:c.1632G>C NP_000052.1:p.Arg544Ser
NM_001287344.1:c.1734G>C NP_001274273.1:p.Arg578Ser
NM_001287344.2:c.1734G>C NP_001274273.1:p.Arg578Ser
NM_001287345.1:c.1104G>C NP_001274274.1:p.Arg368Ser
NM_001287345.2:c.1104G>C NP_001274274.1:p.Arg368Ser
ENST00000308731.7:c.1632G>C ENSP00000308176.7:p.Arg544Ser
ENST00000372880.5:c.1104G>C ENSP00000361971.1:p.Arg368Ser
ENST00000478995.2:n.3149G>C
ENST00000488970.1:n.234G>C
ENST00000488970.2:n.3788G>C
ENST00000618050.4:c.1632G>C ENSP00000479125.1:p.Arg544Ser
ENST00000621635.4:c.1734G>C ENSP00000483570.1:p.Arg578Ser
ENST00000695614.1:c.1632G>C ENSP00000512053.1:p.Arg544Ser
ENST00000695615.1:c.1632G>C ENSP00000512054.1:p.Arg544Ser
ENST00000695616.1:c.*1477G>C ENSP00000512055.1:n.*1477G>C
ENST00000695617.1:c.1629G>C ENSP00000512056.1:p.Arg543Ser
ENST00000695618.1:c.*1381G>C ENSP00000512058.1:n.*1381G>C
ENST00000695619.1:c.*1342G>C ENSP00000512059.1:n.*1342G>C
ENST00000695620.1:c.*1558G>C ENSP00000512060.1:n.*1558G>C
ENST00000695621.1:c.*57G>C ENSP00000512061.1:n.*57G>C
ENST00000695622.1:c.1569G>C ENSP00000512062.1:p.Arg523Ser
ENST00000695623.1:c.1626G>C ENSP00000512063.1:p.Arg542Ser
ENST00000695624.1:n.937G>C
ENST00000695625.1:c.1632G>C ENSP00000512064.1:p.Arg544Ser
ENST00000695626.1:c.387G>C ENSP00000512065.1:n.387G>C
ENST00000695627.1:c.580G>C ENSP00000512066.1:p.Val194Leu
ENST00000695628.1:c.191G>C ENSP00000512067.1:p.Gly64Ala
ENST00000695629.1:c.191-637G>C ENSP00000512068.1:n.191-637G>C
ENST00000695630.1:c.359G>C
ENST00000695631.1:c.115-740G>C
ENST00000695632.1:n.432G>C
ENST00000703407.1:c.1104G>C ENSP00000512057.1:p.Arg368Ser