Canonical Allele Identifier: CA2448284063
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356176C= , CM000685.2:g.101356176C= GRCh38
NC_000023.10:g.100611164C= , CM000685.1:g.100611164C= GRCh37
NC_000023.9:g.100497820C= NCBI36
NG_009616.1:g.35049G= , LRG_128:g.35049G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.1602G=
ENST00000488970.2:n.1600G=
ENST00000695614.1:c.1442G= ENSP00000512053.1:p.Cys481=
ENST00000695615.1:c.1442G= ENSP00000512054.1:p.Cys481=
ENST00000695616.1:c.*1287G= ENSP00000512055.1:n.*1287G=
ENST00000695617.1:c.1439G= ENSP00000512056.1:p.Cys480=
ENST00000695618.1:c.*1191G= ENSP00000512058.1:n.*1191G=
ENST00000695619.1:c.*1152G= ENSP00000512059.1:n.*1152G=
ENST00000695620.1:c.*1368G= ENSP00000512060.1:n.*1368G=
ENST00000695621.1:c.1442G= ENSP00000512061.1:p.Cys481=
ENST00000695622.1:c.1379G= ENSP00000512062.1:p.Cys460=
ENST00000695623.1:c.1436G= ENSP00000512063.1:p.Cys479=
ENST00000695624.1:n.747G=
ENST00000695625.1:c.1442G= ENSP00000512064.1:p.Cys481=
ENST00000695626.1:c.321+608G= ENSP00000512065.1:n.321+608G=
ENST00000695627.1:c.455G= ENSP00000512066.1:p.Cys152=
ENST00000695628.1:c.190+1333G= ENSP00000512067.1:n.190+1333G=
ENST00000695629.1:c.190+1333G= ENSP00000512068.1:n.190+1333G=
ENST00000695630.1:c.358+608G=
ENST00000695631.1:c.114+2134G=
ENST00000695632.1:n.366+608G=
ENST00000703407.1:c.1039-1482G= ENSP00000512057.1:n.1039-1482G=
ENST00000308731.8:c.1442G= MANE Select ENSP00000308176.8:p.Cys481=
ENST00000308731.7:c.1442G= ENSP00000308176.7:p.Cys481=
ENST00000372880.5:c.1039-1482G= ENSP00000361971.1:n.1039-1482G=
ENST00000478995.1:n.114G=
ENST00000618050.4:c.1442G= ENSP00000479125.1:p.Cys481=
ENST00000621635.4:c.1544G= ENSP00000483570.1:p.Cys515=
NM_000061.2:c.1442G= , LRG_128t1:c.1442G= NP_000052.1:p.Cys481=
NM_001287344.1:c.1544G= NP_001274273.1:p.Cys515=
NM_001287345.1:c.1039-1482G= NP_001274274.1:n.1039-1482G=
NM_000061.3:c.1442G= MANE Select NP_000052.1:p.Cys481=
NM_001287344.2:c.1544G= NP_001274273.1:p.Cys515=
NM_001287345.2:c.1039-1482G= NP_001274274.1:n.1039-1482G=