Canonical Allele Identifier: CA2448283839
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101355922T= , CM000685.2:g.101355922T= GRCh38
NC_000023.10:g.100610910T= , CM000685.1:g.100610910T= GRCh37
NC_000023.9:g.100497566T= NCBI36
NG_009616.1:g.35303A= , LRG_128:g.35303A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.1856A=
ENST00000488970.2:n.1854A=
ENST00000695614.1:c.1566+130A= ENSP00000512053.1:n.1566+130A=
ENST00000695615.1:c.1566+130A= ENSP00000512054.1:n.1566+130A=
ENST00000695616.1:c.*1411+130A= ENSP00000512055.1:n.*1411+130A=
ENST00000695617.1:c.1563+130A= ENSP00000512056.1:n.1563+130A=
ENST00000695618.1:c.*1315+130A= ENSP00000512058.1:n.*1315+130A=
ENST00000695619.1:c.*1276+130A= ENSP00000512059.1:n.*1276+130A=
ENST00000695620.1:c.*1492+130A= ENSP00000512060.1:n.*1492+130A=
ENST00000695621.1:c.1566+130A= ENSP00000512061.1:n.1566+130A=
ENST00000695622.1:c.1503+130A= ENSP00000512062.1:n.1503+130A=
ENST00000695623.1:c.1560+130A= ENSP00000512063.1:n.1560+130A=
ENST00000695624.1:n.871+130A=
ENST00000695625.1:c.1566+130A= ENSP00000512064.1:n.1566+130A=
ENST00000695626.1:c.321+862A= ENSP00000512065.1:n.321+862A=
ENST00000695627.1:c.579+130A= ENSP00000512066.1:n.579+130A=
ENST00000695628.1:c.190+1587A= ENSP00000512067.1:n.190+1587A=
ENST00000695629.1:c.190+1587A= ENSP00000512068.1:n.190+1587A=
ENST00000695630.1:c.358+862A=
ENST00000695631.1:c.114+2388A=
ENST00000695632.1:n.366+862A=
ENST00000703407.1:c.1039-1228A= ENSP00000512057.1:n.1039-1228A=
ENST00000308731.8:c.1566+130A= MANE Select ENSP00000308176.8:n.1566+130A=
ENST00000308731.7:c.1566+130A= ENSP00000308176.7:n.1566+130A=
ENST00000372880.5:c.1039-1228A= ENSP00000361971.1:n.1039-1228A=
ENST00000478995.1:n.368A=
ENST00000618050.4:c.1566+130A= ENSP00000479125.1:n.1566+130A=
ENST00000621635.4:c.1668+130A= ENSP00000483570.1:n.1668+130A=
NM_000061.2:c.1566+130A= , LRG_128t1:c.1566+130A= NP_000052.1:n.1566+130A=
NM_001287344.1:c.1668+130A= NP_001274273.1:n.1668+130A=
NM_001287345.1:c.1039-1228A= NP_001274274.1:n.1039-1228A=
NM_000061.3:c.1566+130A= MANE Select NP_000052.1:n.1566+130A=
NM_001287344.2:c.1668+130A= NP_001274273.1:n.1668+130A=
NM_001287345.2:c.1039-1228A= NP_001274274.1:n.1039-1228A=