Canonical Allele Identifier: CA2448283992
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356107T= , CM000685.2:g.101356107T= GRCh38
NC_000023.10:g.100611095T= , CM000685.1:g.100611095T= GRCh37
NC_000023.9:g.100497751T= NCBI36
NG_009616.1:g.35118A= , LRG_128:g.35118A=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1511A= MANE Select NP_000052.1:p.Asp504=
ENST00000308731.8:c.1511A= MANE Select ENSP00000308176.8:p.Asp504=
NM_000061.2:c.1511A= , LRG_128t1:c.1511A= NP_000052.1:p.Asp504=
NM_001287344.1:c.1613A= NP_001274273.1:p.Asp538=
NM_001287344.2:c.1613A= NP_001274273.1:p.Asp538=
NM_001287345.1:c.1039-1413A= NP_001274274.1:n.1039-1413A=
NM_001287345.2:c.1039-1413A= NP_001274274.1:n.1039-1413A=
ENST00000308731.7:c.1511A= ENSP00000308176.7:p.Asp504=
ENST00000372880.5:c.1039-1413A= ENSP00000361971.1:n.1039-1413A=
ENST00000478995.1:n.183A=
ENST00000478995.2:n.1671A=
ENST00000488970.2:n.1669A=
ENST00000618050.4:c.1511A= ENSP00000479125.1:p.Asp504=
ENST00000621635.4:c.1613A= ENSP00000483570.1:p.Asp538=
ENST00000695614.1:c.1511A= ENSP00000512053.1:p.Asp504=
ENST00000695615.1:c.1511A= ENSP00000512054.1:p.Asp504=
ENST00000695616.1:c.*1356A= ENSP00000512055.1:n.*1356A=
ENST00000695617.1:c.1508A= ENSP00000512056.1:p.Asp503=
ENST00000695618.1:c.*1260A= ENSP00000512058.1:n.*1260A=
ENST00000695619.1:c.*1221A= ENSP00000512059.1:n.*1221A=
ENST00000695620.1:c.*1437A= ENSP00000512060.1:n.*1437A=
ENST00000695621.1:c.1511A= ENSP00000512061.1:p.Asp504=
ENST00000695622.1:c.1448A= ENSP00000512062.1:p.Asp483=
ENST00000695623.1:c.1505A= ENSP00000512063.1:p.Asp502=
ENST00000695624.1:n.816A=
ENST00000695625.1:c.1511A= ENSP00000512064.1:p.Asp504=
ENST00000695626.1:c.321+677A= ENSP00000512065.1:n.321+677A=
ENST00000695627.1:c.524A= ENSP00000512066.1:p.Asp175=
ENST00000695628.1:c.190+1402A= ENSP00000512067.1:n.190+1402A=
ENST00000695629.1:c.190+1402A= ENSP00000512068.1:n.190+1402A=
ENST00000695630.1:c.358+677A=
ENST00000695631.1:c.114+2203A=
ENST00000695632.1:n.366+677A=
ENST00000703407.1:c.1039-1413A= ENSP00000512057.1:n.1039-1413A=