Canonical Allele Identifier: CA2448283225
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353923G= , CM000685.2:g.101353923G= GRCh38
NC_000023.10:g.100608911G= , CM000685.1:g.100608911G= GRCh37
NC_000023.9:g.100495567G= NCBI36
NG_009616.1:g.37302C= , LRG_128:g.37302C=
NG_011734.1:g.47C=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1697C= MANE Select NP_000052.1:p.Pro566=
ENST00000308731.8:c.1697C= MANE Select ENSP00000308176.8:p.Pro566=
NM_000061.2:c.1697C= , LRG_128t1:c.1697C= NP_000052.1:p.Pro566=
NM_001287344.1:c.1799C= NP_001274273.1:p.Pro600=
NM_001287344.2:c.1799C= NP_001274273.1:p.Pro600=
NM_001287345.1:c.1169C= NP_001274274.1:p.Pro390=
NM_001287345.2:c.1169C= NP_001274274.1:p.Pro390=
ENST00000308731.7:c.1697C= ENSP00000308176.7:p.Pro566=
ENST00000372880.5:c.1169C= ENSP00000361971.1:p.Pro390=
ENST00000470069.1:n.62C=
ENST00000478995.2:n.3214C=
ENST00000488970.1:n.299C=
ENST00000488970.2:n.3853C=
ENST00000618050.4:c.1697C= ENSP00000479125.1:p.Pro566=
ENST00000621635.4:c.1799C= ENSP00000483570.1:p.Pro600=
ENST00000695614.1:c.1697C= ENSP00000512053.1:p.Pro566=
ENST00000695615.1:c.1697C= ENSP00000512054.1:p.Pro566=
ENST00000695616.1:c.*1542C= ENSP00000512055.1:n.*1542C=
ENST00000695617.1:c.1694C= ENSP00000512056.1:p.Pro565=
ENST00000695618.1:c.*1446C= ENSP00000512058.1:n.*1446C=
ENST00000695619.1:c.*1407C= ENSP00000512059.1:n.*1407C=
ENST00000695620.1:c.*1623C= ENSP00000512060.1:n.*1623C=
ENST00000695621.1:c.*122C= ENSP00000512061.1:n.*122C=
ENST00000695622.1:c.1634C= ENSP00000512062.1:p.Pro545=
ENST00000695623.1:c.1691C= ENSP00000512063.1:p.Pro564=
ENST00000695624.1:n.1002C=
ENST00000695625.1:c.1697C= ENSP00000512064.1:p.Pro566=
ENST00000695626.1:c.452C= ENSP00000512065.1:n.452C=
ENST00000695627.1:c.645C= ENSP00000512066.1:n.645C=
ENST00000695628.1:c.256C= ENSP00000512067.1:n.256C=
ENST00000695629.1:c.191-572C= ENSP00000512068.1:n.191-572C=
ENST00000695630.1:c.424C=
ENST00000695631.1:c.115-675C=
ENST00000695632.1:n.497C=
ENST00000703407.1:c.1169C= ENSP00000512057.1:p.Pro390=