Canonical Allele Identifier: CA413921615
Community Standard Title: NM_000061.3(BTK):c.1636G>A (p.Val546Ile)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353984C>T , CM000685.2:g.101353984C>T GRCh38
NC_000023.10:g.100608972C>T , CM000685.1:g.100608972C>T GRCh37
NC_000023.9:g.100495628C>T NCBI36
NG_009616.1:g.37241G>A , LRG_128:g.37241G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1636G>A MANE Select NP_000052.1:p.Val546Ile
ENST00000308731.8:c.1636G>A MANE Select ENSP00000308176.8:p.Val546Ile
NM_000061.2:c.1636G>A , LRG_128t1:c.1636G>A NP_000052.1:p.Val546Ile
NM_001287344.1:c.1738G>A NP_001274273.1:p.Val580Ile
NM_001287344.2:c.1738G>A NP_001274273.1:p.Val580Ile
NM_001287345.1:c.1108G>A NP_001274274.1:p.Val370Ile
NM_001287345.2:c.1108G>A NP_001274274.1:p.Val370Ile
ENST00000308731.7:c.1636G>A ENSP00000308176.7:p.Val546Ile
ENST00000372880.5:c.1108G>A ENSP00000361971.1:p.Val370Ile
ENST00000470069.1:n.1G>A
ENST00000478995.2:n.3153G>A
ENST00000488970.1:n.238G>A
ENST00000488970.2:n.3792G>A
ENST00000618050.4:c.1636G>A ENSP00000479125.1:p.Val546Ile
ENST00000621635.4:c.1738G>A ENSP00000483570.1:p.Val580Ile
ENST00000695614.1:c.1636G>A ENSP00000512053.1:p.Val546Ile
ENST00000695615.1:c.1636G>A ENSP00000512054.1:p.Val546Ile
ENST00000695616.1:c.*1481G>A ENSP00000512055.1:n.*1481G>A
ENST00000695617.1:c.1633G>A ENSP00000512056.1:p.Val545Ile
ENST00000695618.1:c.*1385G>A ENSP00000512058.1:n.*1385G>A
ENST00000695619.1:c.*1346G>A ENSP00000512059.1:n.*1346G>A
ENST00000695620.1:c.*1562G>A ENSP00000512060.1:n.*1562G>A
ENST00000695621.1:c.*61G>A ENSP00000512061.1:n.*61G>A
ENST00000695622.1:c.1573G>A ENSP00000512062.1:p.Val525Ile
ENST00000695623.1:c.1630G>A ENSP00000512063.1:p.Val544Ile
ENST00000695624.1:n.941G>A
ENST00000695625.1:c.1636G>A ENSP00000512064.1:p.Val546Ile
ENST00000695626.1:c.391G>A ENSP00000512065.1:n.391G>A
ENST00000695627.1:c.584G>A ENSP00000512066.1:p.Cys195Tyr
ENST00000695628.1:c.195G>A ENSP00000512067.1:p.Met65Ile
ENST00000695629.1:c.191-633G>A ENSP00000512068.1:n.191-633G>A
ENST00000695630.1:c.363G>A
ENST00000695631.1:c.115-736G>A
ENST00000695632.1:n.436G>A
ENST00000703407.1:c.1108G>A ENSP00000512057.1:p.Val370Ile