Canonical Allele Identifier: CA413924460
Community Standard Title: NM_000061.3(BTK):c.1379T>A (p.Leu460Ter)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356239A>T , CM000685.2:g.101356239A>T GRCh38
NC_000023.10:g.100611227A>T , CM000685.1:g.100611227A>T GRCh37
NC_000023.9:g.100497883A>T NCBI36
NG_009616.1:g.34986T>A , LRG_128:g.34986T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1379T>A MANE Select NP_000052.1:p.Leu460Ter
ENST00000308731.8:c.1379T>A MANE Select ENSP00000308176.8:p.Leu460Ter
NM_000061.2:c.1379T>A , LRG_128t1:c.1379T>A NP_000052.1:p.Leu460Ter
NM_001287344.1:c.1481T>A NP_001274273.1:p.Leu494Ter
NM_001287344.2:c.1481T>A NP_001274273.1:p.Leu494Ter
NM_001287345.1:c.1039-1545T>A NP_001274274.1:n.1039-1545T>A
NM_001287345.2:c.1039-1545T>A NP_001274274.1:n.1039-1545T>A
ENST00000308731.7:c.1379T>A ENSP00000308176.7:p.Leu460Ter
ENST00000372880.5:c.1039-1545T>A ENSP00000361971.1:n.1039-1545T>A
ENST00000478995.1:n.51T>A
ENST00000478995.2:n.1539T>A
ENST00000488970.2:n.1537T>A
ENST00000618050.4:c.1379T>A ENSP00000479125.1:p.Leu460Ter
ENST00000621635.4:c.1481T>A ENSP00000483570.1:p.Leu494Ter
ENST00000695614.1:c.1379T>A ENSP00000512053.1:p.Leu460Ter
ENST00000695615.1:c.1379T>A ENSP00000512054.1:p.Leu460Ter
ENST00000695616.1:c.*1224T>A ENSP00000512055.1:n.*1224T>A
ENST00000695617.1:c.1376T>A ENSP00000512056.1:p.Leu459Ter
ENST00000695618.1:c.*1128T>A ENSP00000512058.1:n.*1128T>A
ENST00000695619.1:c.*1089T>A ENSP00000512059.1:n.*1089T>A
ENST00000695620.1:c.*1305T>A ENSP00000512060.1:n.*1305T>A
ENST00000695621.1:c.1379T>A ENSP00000512061.1:p.Leu460Ter
ENST00000695622.1:c.1316T>A ENSP00000512062.1:p.Leu439Ter
ENST00000695623.1:c.1373T>A ENSP00000512063.1:p.Leu458Ter
ENST00000695624.1:n.684T>A
ENST00000695625.1:c.1379T>A ENSP00000512064.1:p.Leu460Ter
ENST00000695626.1:c.321+545T>A ENSP00000512065.1:n.321+545T>A
ENST00000695627.1:c.392T>A ENSP00000512066.1:p.Leu131Ter
ENST00000695628.1:c.190+1270T>A ENSP00000512067.1:n.190+1270T>A
ENST00000695629.1:c.190+1270T>A ENSP00000512068.1:n.190+1270T>A
ENST00000695630.1:c.358+545T>A
ENST00000695631.1:c.114+2071T>A
ENST00000695632.1:n.366+545T>A
ENST00000703407.1:c.1039-1545T>A ENSP00000512057.1:n.1039-1545T>A