Canonical Allele Identifier: CA391690473

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• ClinVar Variation Id: 2445267
• ClinVar RCV Id: RCV003154677
• MyVariant Identifiers: chr15:g.40512926A>G (hg19) ; chr15:g.40220725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220725A>G , CM000677.2:g.40220725A>G	GRCh38
NC_000015.9:g.40512926A>G , CM000677.1:g.40512926A>G	GRCh37
NC_000015.8:g.38300218A>G	NCBI36
NG_016338.1:g.64717A>G , LRG_489:g.64717A>G
NG_033169.1:g.8298A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.3119A>G (BUB1B) MANE Select	ENSP00000287598.7:p.Lys1040Arg
ENST00000453867.7:c.-118+3058A>G (PAK6)	ENSP00000401153.3:n.-118+3058A>G
ENST00000558658.6:c.-201+3058A>G (PAK6)	ENSP00000456785.2:n.-201+3058A>G
ENST00000287598.10:c.3119A>G (BUB1B)	ENSP00000287598.6:p.Lys1040Arg
ENST00000412359.7:c.3161A>G (BUB1B)	ENSP00000398470.3:p.Lys1054Arg
ENST00000441369.6:c.-201+3058A>G (BUB1B-PAK6)	ENSP00000406873.1:n.-201+3058A>G
ENST00000453867.6:c.83+3058A>G (BUB1B-PAK6)	ENSP00000401153.2:n.83+3058A>G
ENST00000558658.5:c.81+3058A>G (BUB1B-PAK6)	ENSP00000456785.1:n.81+3058A>G
ENST00000559435.1:c.217+8A>G (BUB1B-PAK6)
NM_001128628.2:c.-201+3058A>G (PAK6)	NP_001122100.1:n.-201+3058A>G
NM_001128629.2:c.-118+3058A>G (PAK6)	NP_001122101.1:n.-118+3058A>G
NM_001211.5:c.3119A>G , LRG_489t1:c.3119A>G (BUB1B)	NP_001202.4:p.Lys1040Arg
XR_001751506.1:n.217+18760T>C
NM_001128629.3:c.-118+3058A>G (BUB1B-PAK6)	NP_001122101.1:n.-118+3058A>G
NM_001211.6:c.3119A>G (BUB1B) MANE Select	NP_001202.5:p.Lys1040Arg
NM_001128628.3:c.-201+3058A>G (BUB1B-PAK6)	NP_001122100.1:n.-201+3058A>G