Canonical Allele Identifier: CA413920542
Community Standard Title: NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353931C>T , CM000685.2:g.101353931C>T GRCh38
NC_000023.10:g.100608919C>T , CM000685.1:g.100608919C>T GRCh37
NC_000023.9:g.100495575C>T NCBI36
NG_009616.1:g.37294G>A , LRG_128:g.37294G>A
NG_011734.1:g.39G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1689G>A MANE Select NP_000052.1:p.Trp563Ter
ENST00000308731.8:c.1689G>A MANE Select ENSP00000308176.8:p.Trp563Ter
NM_000061.2:c.1689G>A , LRG_128t1:c.1689G>A NP_000052.1:p.Trp563Ter
NM_001287344.1:c.1791G>A NP_001274273.1:p.Trp597Ter
NM_001287344.2:c.1791G>A NP_001274273.1:p.Trp597Ter
NM_001287345.1:c.1161G>A NP_001274274.1:p.Trp387Ter
NM_001287345.2:c.1161G>A NP_001274274.1:p.Trp387Ter
ENST00000308731.7:c.1689G>A ENSP00000308176.7:p.Trp563Ter
ENST00000372880.5:c.1161G>A ENSP00000361971.1:p.Trp387Ter
ENST00000470069.1:n.54G>A
ENST00000478995.2:n.3206G>A
ENST00000488970.1:n.291G>A
ENST00000488970.2:n.3845G>A
ENST00000618050.4:c.1689G>A ENSP00000479125.1:p.Trp563Ter
ENST00000621635.4:c.1791G>A ENSP00000483570.1:p.Trp597Ter
ENST00000695614.1:c.1689G>A ENSP00000512053.1:p.Trp563Ter
ENST00000695615.1:c.1689G>A ENSP00000512054.1:p.Trp563Ter
ENST00000695616.1:c.*1534G>A ENSP00000512055.1:n.*1534G>A
ENST00000695617.1:c.1686G>A ENSP00000512056.1:p.Trp562Ter
ENST00000695618.1:c.*1438G>A ENSP00000512058.1:n.*1438G>A
ENST00000695619.1:c.*1399G>A ENSP00000512059.1:n.*1399G>A
ENST00000695620.1:c.*1615G>A ENSP00000512060.1:n.*1615G>A
ENST00000695621.1:c.*114G>A ENSP00000512061.1:n.*114G>A
ENST00000695622.1:c.1626G>A ENSP00000512062.1:p.Trp542Ter
ENST00000695623.1:c.1683G>A ENSP00000512063.1:p.Trp561Ter
ENST00000695624.1:n.994G>A
ENST00000695625.1:c.1689G>A ENSP00000512064.1:p.Trp563Ter
ENST00000695626.1:c.444G>A ENSP00000512065.1:n.444G>A
ENST00000695627.1:c.637G>A ENSP00000512066.1:n.637G>A
ENST00000695628.1:c.248G>A ENSP00000512067.1:n.248G>A
ENST00000695629.1:c.191-580G>A ENSP00000512068.1:n.191-580G>A
ENST00000695630.1:c.416G>A
ENST00000695631.1:c.115-683G>A
ENST00000695632.1:n.489G>A
ENST00000703407.1:c.1161G>A ENSP00000512057.1:p.Trp387Ter