Canonical Allele Identifier: CA2448284511
Community Standard Title: NM_000061.3(BTK):c.1082A= (p.Tyr361=)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101358330T= , CM000685.2:g.101358330T= GRCh38
NC_000023.10:g.100613318T= , CM000685.1:g.100613318T= GRCh37
NC_000023.9:g.100499974T= NCBI36
NG_009616.1:g.32895A= , LRG_128:g.32895A=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1082A= MANE Select NP_000052.1:p.Tyr361=
ENST00000308731.8:c.1082A= MANE Select ENSP00000308176.8:p.Tyr361=
NM_000061.2:c.1082A= , LRG_128t1:c.1082A= NP_000052.1:p.Tyr361=
NM_001287344.1:c.1184A= NP_001274273.1:p.Tyr395=
NM_001287344.2:c.1184A= NP_001274273.1:p.Tyr395=
NM_001287345.1:c.1038+44A= NP_001274274.1:n.1038+44A=
NM_001287345.2:c.1038+44A= NP_001274274.1:n.1038+44A=
ENST00000308731.7:c.1082A= ENSP00000308176.7:p.Tyr361=
ENST00000372880.5:c.1038+44A= ENSP00000361971.1:n.1038+44A=
ENST00000470329.1:n.32A=
ENST00000478995.2:n.1242A=
ENST00000488970.2:n.1240A=
ENST00000618050.4:c.1082A= ENSP00000479125.1:p.Tyr361=
ENST00000621635.4:c.1184A= ENSP00000483570.1:p.Tyr395=
ENST00000695614.1:c.1082A= ENSP00000512053.1:p.Tyr361=
ENST00000695615.1:c.1082A= ENSP00000512054.1:p.Tyr361=
ENST00000695616.1:c.*927A= ENSP00000512055.1:n.*927A=
ENST00000695617.1:c.1079A= ENSP00000512056.1:p.Tyr360=
ENST00000695618.1:c.*831A= ENSP00000512058.1:n.*831A=
ENST00000695619.1:c.*792A= ENSP00000512059.1:n.*792A=
ENST00000695620.1:c.*927A= ENSP00000512060.1:n.*927A=
ENST00000695621.1:c.1082A= ENSP00000512061.1:p.Tyr361=
ENST00000695622.1:c.1019A= ENSP00000512062.1:p.Tyr340=
ENST00000695623.1:c.1076A= ENSP00000512063.1:p.Tyr359=
ENST00000695624.1:n.387A=
ENST00000695625.1:c.1082A= ENSP00000512064.1:p.Tyr361=
ENST00000695626.1:c.95A= ENSP00000512065.1:p.Tyr32=
ENST00000695627.1:c.95A= ENSP00000512066.1:p.Tyr32=
ENST00000695628.1:c.95A= ENSP00000512067.1:p.Tyr32=
ENST00000695629.1:c.95A= ENSP00000512068.1:p.Tyr32=
ENST00000695630.1:c.91A=
ENST00000695631.1:c.94A=
ENST00000695632.1:n.99A=
ENST00000703407.1:c.1038+44A= ENSP00000512057.1:n.1038+44A=