Canonical Allele Identifier: CA2171676998

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220807A= , CM000677.2:g.40220807A= GRCh38
NC_000015.9:g.40513008A= , CM000677.1:g.40513008A= GRCh37
NC_000015.8:g.38300300A= NCBI36
NG_016338.1:g.64799A= , LRG_489:g.64799A=
NG_033169.1:g.8380A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*48A= (BUB1B) MANE Select ENSP00000287598.7:n.*48A=
ENST00000453867.7:c.-118+3140A= (PAK6) ENSP00000401153.3:n.-118+3140A=
ENST00000558658.6:c.-201+3140A= (PAK6) ENSP00000456785.2:n.-201+3140A=
ENST00000287598.10:c.*48A= (BUB1B) ENSP00000287598.6:n.*48A=
ENST00000412359.7:c.*48A= (BUB1B) ENSP00000398470.3:n.*48A=
ENST00000441369.6:c.-201+3140A= (BUB1B-PAK6) ENSP00000406873.1:n.-201+3140A=
ENST00000453867.6:c.83+3140A= (BUB1B-PAK6) ENSP00000401153.2:n.83+3140A=
ENST00000558658.5:c.81+3140A= (BUB1B-PAK6) ENSP00000456785.1:n.81+3140A=
ENST00000559435.1:c.217+90A= (BUB1B-PAK6)
NM_001128628.2:c.-201+3140A= (PAK6) NP_001122100.1:n.-201+3140A=
NM_001128629.2:c.-118+3140A= (PAK6) NP_001122101.1:n.-118+3140A=
NM_001211.5:c.*48A= , LRG_489t1:c.*48A= (BUB1B) NP_001202.4:n.*48A=
XR_001751506.1:n.217+18678T=
NM_001128629.3:c.-118+3140A= (BUB1B-PAK6) NP_001122101.1:n.-118+3140A=
NM_001211.6:c.*48A= (BUB1B) MANE Select NP_001202.5:n.*48A=
NM_001128628.3:c.-201+3140A= (BUB1B-PAK6) NP_001122100.1:n.-201+3140A=