Canonical Allele Identifier: CA391689296
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.40512779A>C (hg19) chr15:g.40220578A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220578A>C , CM000677.2:g.40220578A>C GRCh38
NC_000015.9:g.40512779A>C , CM000677.1:g.40512779A>C GRCh37
NC_000015.8:g.38300071A>C NCBI36
NG_016338.1:g.64570A>C , LRG_489:g.64570A>C
NG_033169.1:g.8151A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.2972A>C (BUB1B) MANE Select ENSP00000287598.7:p.Glu991Ala
ENST00000453867.7:c.-118+2911A>C (PAK6) ENSP00000401153.3:n.-118+2911A>C
ENST00000558658.6:c.-201+2911A>C (PAK6) ENSP00000456785.2:n.-201+2911A>C
ENST00000287598.10:c.2972A>C (BUB1B) ENSP00000287598.6:p.Glu991Ala
ENST00000412359.7:c.3014A>C (BUB1B) ENSP00000398470.3:p.Glu1005Ala
ENST00000441369.6:c.-201+2911A>C (BUB1B-PAK6) ENSP00000406873.1:n.-201+2911A>C
ENST00000453867.6:c.83+2911A>C (BUB1B-PAK6) ENSP00000401153.2:n.83+2911A>C
ENST00000558151.1:n.373A>C (BUB1B)
ENST00000558658.5:c.81+2911A>C (BUB1B-PAK6) ENSP00000456785.1:n.81+2911A>C
ENST00000559435.1:c.78A>C (BUB1B-PAK6)
NM_001128628.2:c.-201+2911A>C (PAK6) NP_001122100.1:n.-201+2911A>C
NM_001128629.2:c.-118+2911A>C (PAK6) NP_001122101.1:n.-118+2911A>C
NM_001211.5:c.2972A>C , LRG_489t1:c.2972A>C (BUB1B) NP_001202.4:p.Glu991Ala
XR_001751506.1:n.217+18907T>G
NM_001128629.3:c.-118+2911A>C (BUB1B-PAK6) NP_001122101.1:n.-118+2911A>C
NM_001211.6:c.2972A>C (BUB1B) MANE Select NP_001202.5:p.Glu991Ala
NM_001128628.3:c.-201+2911A>C (BUB1B-PAK6) NP_001122100.1:n.-201+2911A>C
Search 100 bp 5'
Search 100 bp 3'