Canonical Allele Identifier: CA391690559

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• dbSNP Id: rs1488161512
• gnomAD v2: 15-40512938-C-T
• gnomAD v4: 15-40220737-C-T
• MyVariant Identifiers: chr15:g.40512938C>T (hg19) ; chr15:g.40220737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220737C>T , CM000677.2:g.40220737C>T	GRCh38
NC_000015.9:g.40512938C>T , CM000677.1:g.40512938C>T	GRCh37
NC_000015.8:g.38300230C>T	NCBI36
NG_016338.1:g.64729C>T , LRG_489:g.64729C>T
NG_033169.1:g.8310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.3131C>T (BUB1B) MANE Select	ENSP00000287598.7:p.Pro1044Leu
ENST00000453867.7:c.-118+3070C>T (PAK6)	ENSP00000401153.3:n.-118+3070C>T
ENST00000558658.6:c.-201+3070C>T (PAK6)	ENSP00000456785.2:n.-201+3070C>T
ENST00000287598.10:c.3131C>T (BUB1B)	ENSP00000287598.6:p.Pro1044Leu
ENST00000412359.7:c.3173C>T (BUB1B)	ENSP00000398470.3:p.Pro1058Leu
ENST00000441369.6:c.-201+3070C>T (BUB1B-PAK6)	ENSP00000406873.1:n.-201+3070C>T
ENST00000453867.6:c.83+3070C>T (BUB1B-PAK6)	ENSP00000401153.2:n.83+3070C>T
ENST00000558658.5:c.81+3070C>T (BUB1B-PAK6)	ENSP00000456785.1:n.81+3070C>T
ENST00000559435.1:c.217+20C>T (BUB1B-PAK6)
NM_001128628.2:c.-201+3070C>T (PAK6)	NP_001122100.1:n.-201+3070C>T
NM_001128629.2:c.-118+3070C>T (PAK6)	NP_001122101.1:n.-118+3070C>T
NM_001211.5:c.3131C>T , LRG_489t1:c.3131C>T (BUB1B)	NP_001202.4:p.Pro1044Leu
XR_001751506.1:n.217+18748G>A
NM_001128629.3:c.-118+3070C>T (BUB1B-PAK6)	NP_001122101.1:n.-118+3070C>T
NM_001211.6:c.3131C>T (BUB1B) MANE Select	NP_001202.5:p.Pro1044Leu
NM_001128628.3:c.-201+3070C>T (BUB1B-PAK6)	NP_001122100.1:n.-201+3070C>T