Canonical Allele Identifier: CA413919893
Community Standard Title: NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353875G>A , CM000685.2:g.101353875G>A GRCh38
NC_000023.10:g.100608863G>A , CM000685.1:g.100608863G>A GRCh37
NC_000023.9:g.100495519G>A NCBI36
NG_009616.1:g.37350C>T , LRG_128:g.37350C>T
NG_011734.1:g.95C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1745C>T MANE Select NP_000052.1:p.Ala582Val
ENST00000308731.8:c.1745C>T MANE Select ENSP00000308176.8:p.Ala582Val
NM_000061.2:c.1745C>T , LRG_128t1:c.1745C>T NP_000052.1:p.Ala582Val
NM_001287344.1:c.1847C>T NP_001274273.1:p.Ala616Val
NM_001287344.2:c.1847C>T NP_001274273.1:p.Ala616Val
NM_001287345.1:c.1217C>T NP_001274274.1:p.Ala406Val
NM_001287345.2:c.1217C>T NP_001274274.1:p.Ala406Val
ENST00000308731.7:c.1745C>T ENSP00000308176.7:p.Ala582Val
ENST00000372880.5:c.1217C>T ENSP00000361971.1:p.Ala406Val
ENST00000470069.1:n.110C>T
ENST00000478995.2:n.3262C>T
ENST00000488970.1:n.347C>T
ENST00000488970.2:n.3901C>T
ENST00000618050.4:c.1744C>T ENSP00000479125.1:n.1744C>T
ENST00000621635.4:c.1847C>T ENSP00000483570.1:p.Ala616Val
ENST00000695614.1:c.1745C>T ENSP00000512053.1:p.Ala582Val
ENST00000695615.1:c.1745C>T ENSP00000512054.1:p.Ala582Val
ENST00000695616.1:c.*1590C>T ENSP00000512055.1:n.*1590C>T
ENST00000695617.1:c.1742C>T ENSP00000512056.1:p.Ala581Val
ENST00000695618.1:c.*1494C>T ENSP00000512058.1:n.*1494C>T
ENST00000695619.1:c.*1455C>T ENSP00000512059.1:n.*1455C>T
ENST00000695620.1:c.*1671C>T ENSP00000512060.1:n.*1671C>T
ENST00000695621.1:c.*170C>T ENSP00000512061.1:n.*170C>T
ENST00000695622.1:c.1682C>T ENSP00000512062.1:p.Ala561Val
ENST00000695623.1:c.1739C>T ENSP00000512063.1:p.Ala580Val
ENST00000695624.1:n.1050C>T
ENST00000695625.1:c.1745C>T ENSP00000512064.1:p.Ala582Val
ENST00000695626.1:c.500C>T ENSP00000512065.1:n.500C>T
ENST00000695627.1:c.693C>T ENSP00000512066.1:n.693C>T
ENST00000695628.1:c.304C>T ENSP00000512067.1:n.304C>T
ENST00000695629.1:c.191-524C>T ENSP00000512068.1:n.191-524C>T
ENST00000695630.1:c.472C>T
ENST00000695631.1:c.115-627C>T
ENST00000703407.1:c.1217C>T ENSP00000512057.1:p.Ala406Val