Canonical Allele Identifier: CA2448283981
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356102A= , CM000685.2:g.101356102A= GRCh38
NC_000023.10:g.100611090A= , CM000685.1:g.100611090A= GRCh37
NC_000023.9:g.100497746A= NCBI36
NG_009616.1:g.35123T= , LRG_128:g.35123T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.1676T=
ENST00000488970.2:n.1674T=
ENST00000695614.1:c.1516T= ENSP00000512053.1:p.Cys506=
ENST00000695615.1:c.1516T= ENSP00000512054.1:p.Cys506=
ENST00000695616.1:c.*1361T= ENSP00000512055.1:n.*1361T=
ENST00000695617.1:c.1513T= ENSP00000512056.1:p.Cys505=
ENST00000695618.1:c.*1265T= ENSP00000512058.1:n.*1265T=
ENST00000695619.1:c.*1226T= ENSP00000512059.1:n.*1226T=
ENST00000695620.1:c.*1442T= ENSP00000512060.1:n.*1442T=
ENST00000695621.1:c.1516T= ENSP00000512061.1:p.Cys506=
ENST00000695622.1:c.1453T= ENSP00000512062.1:p.Cys485=
ENST00000695623.1:c.1510T= ENSP00000512063.1:p.Cys504=
ENST00000695624.1:n.821T=
ENST00000695625.1:c.1516T= ENSP00000512064.1:p.Cys506=
ENST00000695626.1:c.321+682T= ENSP00000512065.1:n.321+682T=
ENST00000695627.1:c.529T= ENSP00000512066.1:p.Cys177=
ENST00000695628.1:c.190+1407T= ENSP00000512067.1:n.190+1407T=
ENST00000695629.1:c.190+1407T= ENSP00000512068.1:n.190+1407T=
ENST00000695630.1:c.358+682T=
ENST00000695631.1:c.114+2208T=
ENST00000695632.1:n.366+682T=
ENST00000703407.1:c.1039-1408T= ENSP00000512057.1:n.1039-1408T=
ENST00000308731.8:c.1516T= MANE Select ENSP00000308176.8:p.Cys506=
ENST00000308731.7:c.1516T= ENSP00000308176.7:p.Cys506=
ENST00000372880.5:c.1039-1408T= ENSP00000361971.1:n.1039-1408T=
ENST00000478995.1:n.188T=
ENST00000618050.4:c.1516T= ENSP00000479125.1:p.Cys506=
ENST00000621635.4:c.1618T= ENSP00000483570.1:p.Cys540=
NM_000061.2:c.1516T= , LRG_128t1:c.1516T= NP_000052.1:p.Cys506=
NM_001287344.1:c.1618T= NP_001274273.1:p.Cys540=
NM_001287345.1:c.1039-1408T= NP_001274274.1:n.1039-1408T=
NM_000061.3:c.1516T= MANE Select NP_000052.1:p.Cys506=
NM_001287344.2:c.1618T= NP_001274273.1:p.Cys540=
NM_001287345.2:c.1039-1408T= NP_001274274.1:n.1039-1408T=