Canonical Allele Identifier: CA7476197

Linked Data

ClinVar Variation Id: 1057483
dbSNP Id: rs776542291

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220719T>C , CM000677.2:g.40220719T>C GRCh38
NC_000015.9:g.40512920T>C , CM000677.1:g.40512920T>C GRCh37
NC_000015.8:g.38300212T>C NCBI36
NG_016338.1:g.64711T>C , LRG_489:g.64711T>C
NG_033169.1:g.8292T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.3113T>C (BUB1B) MANE Select ENSP00000287598.7:p.Val1038Ala
ENST00000453867.7:c.-118+3052T>C (PAK6) ENSP00000401153.3:n.-118+3052T>C
ENST00000558658.6:c.-201+3052T>C (PAK6) ENSP00000456785.2:n.-201+3052T>C
ENST00000287598.10:c.3113T>C (BUB1B) ENSP00000287598.6:p.Val1038Ala
ENST00000412359.7:c.3155T>C (BUB1B) ENSP00000398470.3:p.Val1052Ala
ENST00000441369.6:c.-201+3052T>C (BUB1B-PAK6) ENSP00000406873.1:n.-201+3052T>C
ENST00000453867.6:c.83+3052T>C (BUB1B-PAK6) ENSP00000401153.2:n.83+3052T>C
ENST00000558658.5:c.81+3052T>C (BUB1B-PAK6) ENSP00000456785.1:n.81+3052T>C
ENST00000559435.1:c.217+2T>C (BUB1B-PAK6)
NM_001128628.2:c.-201+3052T>C (PAK6) NP_001122100.1:n.-201+3052T>C
NM_001128629.2:c.-118+3052T>C (PAK6) NP_001122101.1:n.-118+3052T>C
NM_001211.5:c.3113T>C , LRG_489t1:c.3113T>C (BUB1B) NP_001202.4:p.Val1038Ala
XR_001751506.1:n.217+18766A>G
NM_001128629.3:c.-118+3052T>C (BUB1B-PAK6) NP_001122101.1:n.-118+3052T>C
NM_001211.6:c.3113T>C (BUB1B) MANE Select NP_001202.5:p.Val1038Ala
NM_001128628.3:c.-201+3052T>C (BUB1B-PAK6) NP_001122100.1:n.-201+3052T>C