Canonical Allele Identifier: CA391690467

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220724A>G , CM000677.2:g.40220724A>G GRCh38
NC_000015.9:g.40512925A>G , CM000677.1:g.40512925A>G GRCh37
NC_000015.8:g.38300217A>G NCBI36
NG_016338.1:g.64716A>G , LRG_489:g.64716A>G
NG_033169.1:g.8297A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.3118A>G (BUB1B) MANE Select ENSP00000287598.7:p.Lys1040Glu
ENST00000453867.7:c.-118+3057A>G (PAK6) ENSP00000401153.3:n.-118+3057A>G
ENST00000558658.6:c.-201+3057A>G (PAK6) ENSP00000456785.2:n.-201+3057A>G
ENST00000287598.10:c.3118A>G (BUB1B) ENSP00000287598.6:p.Lys1040Glu
ENST00000412359.7:c.3160A>G (BUB1B) ENSP00000398470.3:p.Lys1054Glu
ENST00000441369.6:c.-201+3057A>G (BUB1B-PAK6) ENSP00000406873.1:n.-201+3057A>G
ENST00000453867.6:c.83+3057A>G (BUB1B-PAK6) ENSP00000401153.2:n.83+3057A>G
ENST00000558658.5:c.81+3057A>G (BUB1B-PAK6) ENSP00000456785.1:n.81+3057A>G
ENST00000559435.1:c.217+7A>G (BUB1B-PAK6)
NM_001128628.2:c.-201+3057A>G (PAK6) NP_001122100.1:n.-201+3057A>G
NM_001128629.2:c.-118+3057A>G (PAK6) NP_001122101.1:n.-118+3057A>G
NM_001211.5:c.3118A>G , LRG_489t1:c.3118A>G (BUB1B) NP_001202.4:p.Lys1040Glu
XR_001751506.1:n.217+18761T>C
NM_001128629.3:c.-118+3057A>G (BUB1B-PAK6) NP_001122101.1:n.-118+3057A>G
NM_001211.6:c.3118A>G (BUB1B) MANE Select NP_001202.5:p.Lys1040Glu
NM_001128628.3:c.-201+3057A>G (BUB1B-PAK6) NP_001122100.1:n.-201+3057A>G