Canonical Allele Identifier: CA2448281924
Community Standard Title: NM_000061.3(BTK):c.1978T= (p.Ter660=)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101349887A= , CM000685.2:g.101349887A= GRCh38
NC_000023.10:g.100604875A= , CM000685.1:g.100604875A= GRCh37
NC_000023.9:g.100491531A= NCBI36
NG_009616.1:g.41338T= , LRG_128:g.41338T=
NG_011734.1:g.4083T=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1978T= MANE Select NP_000052.1:p.Ter660=
ENST00000308731.8:c.1978T= MANE Select ENSP00000308176.8:p.Ter660=
NM_000061.2:c.1978T= , LRG_128t1:c.1978T= NP_000052.1:p.Ter660=
NM_001287344.1:c.2080T= NP_001274273.1:p.Ter694=
NM_001287344.2:c.2080T= NP_001274273.1:p.Ter694=
NM_001287345.1:c.1450T= NP_001274274.1:p.Ter484=
NM_001287345.2:c.1450T= NP_001274274.1:p.Ter484=
ENST00000308731.7:c.1978T= ENSP00000308176.7:p.Ter660=
ENST00000372880.5:c.1450T= ENSP00000361971.1:p.Ter484=
ENST00000478995.2:n.3495T=
ENST00000488970.2:n.4134T=
ENST00000618050.4:c.1977T= ENSP00000479125.1:n.1977T=
ENST00000621635.4:c.2080T= ENSP00000483570.1:p.Ter694=
ENST00000695614.1:c.1978T= ENSP00000512053.1:p.Ter660=
ENST00000695615.1:c.1978T= ENSP00000512054.1:p.Ter660=
ENST00000695616.1:c.*1823T= ENSP00000512055.1:n.*1823T=
ENST00000695617.1:c.1975T= ENSP00000512056.1:p.Ter659=
ENST00000695618.1:c.*1727T= ENSP00000512058.1:n.*1727T=
ENST00000695619.1:c.*1688T= ENSP00000512059.1:n.*1688T=
ENST00000695620.1:c.*1904T= ENSP00000512060.1:n.*1904T=
ENST00000695621.1:c.*403T= ENSP00000512061.1:n.*403T=
ENST00000695622.1:c.1915T= ENSP00000512062.1:p.Ter639=
ENST00000695623.1:c.1972T= ENSP00000512063.1:p.Ter658=
ENST00000695624.1:n.1283T=
ENST00000695625.1:c.1945T= ENSP00000512064.1:p.Ter649=
ENST00000695626.1:c.733T= ENSP00000512065.1:n.733T=
ENST00000695627.1:c.926T= ENSP00000512066.1:n.926T=
ENST00000695628.1:c.537T= ENSP00000512067.1:n.537T=
ENST00000695629.1:c.418T= ENSP00000512068.1:p.Ter140=
ENST00000695630.1:c.705T=
ENST00000703407.1:c.1450T= ENSP00000512057.1:p.Ter484=