Canonical Allele Identifier: CA413917743
Community Standard Title: NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101349944G>A , CM000685.2:g.101349944G>A GRCh38
NC_000023.10:g.100604932G>A , CM000685.1:g.100604932G>A GRCh37
NC_000023.9:g.100491588G>A NCBI36
NG_009616.1:g.41281C>T , LRG_128:g.41281C>T
NG_011734.1:g.4026C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1921C>T MANE Select NP_000052.1:p.Arg641Cys
ENST00000308731.8:c.1921C>T MANE Select ENSP00000308176.8:p.Arg641Cys
NM_000061.2:c.1921C>T , LRG_128t1:c.1921C>T NP_000052.1:p.Arg641Cys
NM_001287344.1:c.2023C>T NP_001274273.1:p.Arg675Cys
NM_001287344.2:c.2023C>T NP_001274273.1:p.Arg675Cys
NM_001287345.1:c.1393C>T NP_001274274.1:p.Arg465Cys
NM_001287345.2:c.1393C>T NP_001274274.1:p.Arg465Cys
ENST00000308731.7:c.1921C>T ENSP00000308176.7:p.Arg641Cys
ENST00000372880.5:c.1393C>T ENSP00000361971.1:p.Arg465Cys
ENST00000478995.2:n.3438C>T
ENST00000488970.2:n.4077C>T
ENST00000618050.4:c.1920C>T ENSP00000479125.1:n.1920C>T
ENST00000621635.4:c.2023C>T ENSP00000483570.1:p.Arg675Cys
ENST00000695614.1:c.1921C>T ENSP00000512053.1:p.Arg641Cys
ENST00000695615.1:c.1921C>T ENSP00000512054.1:p.Arg641Cys
ENST00000695616.1:c.*1766C>T ENSP00000512055.1:n.*1766C>T
ENST00000695617.1:c.1918C>T ENSP00000512056.1:p.Arg640Cys
ENST00000695618.1:c.*1670C>T ENSP00000512058.1:n.*1670C>T
ENST00000695619.1:c.*1631C>T ENSP00000512059.1:n.*1631C>T
ENST00000695620.1:c.*1847C>T ENSP00000512060.1:n.*1847C>T
ENST00000695621.1:c.*346C>T ENSP00000512061.1:n.*346C>T
ENST00000695622.1:c.1858C>T ENSP00000512062.1:p.Arg620Cys
ENST00000695623.1:c.1915C>T ENSP00000512063.1:p.Arg639Cys
ENST00000695624.1:n.1226C>T
ENST00000695625.1:c.1888C>T ENSP00000512064.1:p.Arg630Cys
ENST00000695626.1:c.676C>T ENSP00000512065.1:n.676C>T
ENST00000695627.1:c.869C>T ENSP00000512066.1:n.869C>T
ENST00000695628.1:c.480C>T ENSP00000512067.1:n.480C>T
ENST00000695629.1:c.361C>T ENSP00000512068.1:p.Arg121Cys
ENST00000695630.1:c.648C>T
ENST00000695631.1:c.182C>T
ENST00000703407.1:c.1393C>T ENSP00000512057.1:p.Arg465Cys