Canonical Allele Identifier: CA2171676819

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220360T= , CM000677.2:g.40220360T= GRCh38
NC_000015.9:g.40512561T= , CM000677.1:g.40512561T= GRCh37
NC_000015.8:g.38299853T= NCBI36
NG_016338.1:g.64352T= , LRG_489:g.64352T=
NG_033169.1:g.7933T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.2958-204T= (BUB1B) MANE Select ENSP00000287598.7:n.2958-204T=
ENST00000453867.7:c.-118+2693T= (PAK6) ENSP00000401153.3:n.-118+2693T=
ENST00000558658.6:c.-201+2693T= (PAK6) ENSP00000456785.2:n.-201+2693T=
ENST00000287598.10:c.2958-204T= (BUB1B) ENSP00000287598.6:n.2958-204T=
ENST00000412359.7:c.3000-204T= (BUB1B) ENSP00000398470.3:n.3000-204T=
ENST00000441369.6:c.-201+2693T= (BUB1B-PAK6) ENSP00000406873.1:n.-201+2693T=
ENST00000453867.6:c.83+2693T= (BUB1B-PAK6) ENSP00000401153.2:n.83+2693T=
ENST00000558151.1:n.359-204T= (BUB1B)
ENST00000558658.5:c.81+2693T= (BUB1B-PAK6) ENSP00000456785.1:n.81+2693T=
ENST00000559435.1:c.64-204T= (BUB1B-PAK6)
NM_001128628.2:c.-201+2693T= (PAK6) NP_001122100.1:n.-201+2693T=
NM_001128629.2:c.-118+2693T= (PAK6) NP_001122101.1:n.-118+2693T=
NM_001211.5:c.2958-204T= , LRG_489t1:c.2958-204T= (BUB1B) NP_001202.4:n.2958-204T=
XR_001751506.1:n.217+19125A=
NM_001128629.3:c.-118+2693T= (BUB1B-PAK6) NP_001122101.1:n.-118+2693T=
NM_001211.6:c.2958-204T= (BUB1B) MANE Select NP_001202.5:n.2958-204T=
NM_001128628.3:c.-201+2693T= (BUB1B-PAK6) NP_001122100.1:n.-201+2693T=