Canonical Allele Identifier: CA391690002
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

ClinVar Variation Id: 580696
ClinVar RCV Id: RCV002233407
dbSNP Id: rs1566831785
MyVariant Identifiers: chr15:g.40512862A>G (hg19) chr15:g.40220661A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220661A>G , CM000677.2:g.40220661A>G GRCh38
NC_000015.9:g.40512862A>G , CM000677.1:g.40512862A>G GRCh37
NC_000015.8:g.38300154A>G NCBI36
NG_016338.1:g.64653A>G , LRG_489:g.64653A>G
NG_033169.1:g.8234A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.3055A>G (BUB1B) MANE Select ENSP00000287598.7:p.Met1019Val
ENST00000453867.7:c.-118+2994A>G (PAK6) ENSP00000401153.3:n.-118+2994A>G
ENST00000558658.6:c.-201+2994A>G (PAK6) ENSP00000456785.2:n.-201+2994A>G
ENST00000287598.10:c.3055A>G (BUB1B) ENSP00000287598.6:p.Met1019Val
ENST00000412359.7:c.3097A>G (BUB1B) ENSP00000398470.3:p.Met1033Val
ENST00000441369.6:c.-201+2994A>G (BUB1B-PAK6) ENSP00000406873.1:n.-201+2994A>G
ENST00000453867.6:c.83+2994A>G (BUB1B-PAK6) ENSP00000401153.2:n.83+2994A>G
ENST00000558658.5:c.81+2994A>G (BUB1B-PAK6) ENSP00000456785.1:n.81+2994A>G
ENST00000559435.1:c.161A>G (BUB1B-PAK6)
NM_001128628.2:c.-201+2994A>G (PAK6) NP_001122100.1:n.-201+2994A>G
NM_001128629.2:c.-118+2994A>G (PAK6) NP_001122101.1:n.-118+2994A>G
NM_001211.5:c.3055A>G , LRG_489t1:c.3055A>G (BUB1B) NP_001202.4:p.Met1019Val
XR_001751506.1:n.217+18824T>C
NM_001128629.3:c.-118+2994A>G (BUB1B-PAK6) NP_001122101.1:n.-118+2994A>G
NM_001211.6:c.3055A>G (BUB1B) MANE Select NP_001202.5:p.Met1019Val
NM_001128628.3:c.-201+2994A>G (BUB1B-PAK6) NP_001122100.1:n.-201+2994A>G
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