Linked Data
ClinVar Variation Id:
1799172
ClinVar RCV Id:
RCV002444019
gnomAD v4:
15-40220648-G-A
MyVariant Identifiers:
chr15:g.40512849G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40220648G>A , CM000677.2:g.40220648G>A | GRCh38 |
| NC_000015.9:g.40512849G>A , CM000677.1:g.40512849G>A | GRCh37 |
| NC_000015.8:g.38300141G>A | NCBI36 |
| NG_016338.1:g.64640G>A , LRG_489:g.64640G>A | |
| NG_033169.1:g.8221G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287598.11:c.3042G>A (BUB1B) MANE Select | ENSP00000287598.7:p.Glu1014= | |
| ENST00000453867.7:c.-118+2981G>A (PAK6) | ENSP00000401153.3:n.-118+2981G>A | |
| ENST00000558658.6:c.-201+2981G>A (PAK6) | ENSP00000456785.2:n.-201+2981G>A | |
| ENST00000287598.10:c.3042G>A (BUB1B) | ENSP00000287598.6:p.Glu1014= | |
| ENST00000412359.7:c.3084G>A (BUB1B) | ENSP00000398470.3:p.Glu1028= | |
| ENST00000441369.6:c.-201+2981G>A (BUB1B-PAK6) | ENSP00000406873.1:n.-201+2981G>A | |
| ENST00000453867.6:c.83+2981G>A (BUB1B-PAK6) | ENSP00000401153.2:n.83+2981G>A | |
| ENST00000558658.5:c.81+2981G>A (BUB1B-PAK6) | ENSP00000456785.1:n.81+2981G>A | |
| ENST00000559435.1:c.148G>A (BUB1B-PAK6) | ||
| NM_001128628.2:c.-201+2981G>A (PAK6) | NP_001122100.1:n.-201+2981G>A | |
| NM_001128629.2:c.-118+2981G>A (PAK6) | NP_001122101.1:n.-118+2981G>A | |
| NM_001211.5:c.3042G>A , LRG_489t1:c.3042G>A (BUB1B) | NP_001202.4:p.Glu1014= | |
| XR_001751506.1:n.217+18837C>T | ||
| NM_001128629.3:c.-118+2981G>A (BUB1B-PAK6) | NP_001122101.1:n.-118+2981G>A | |
| NM_001211.6:c.3042G>A (BUB1B) MANE Select | NP_001202.5:p.Glu1014= | |
| NM_001128628.3:c.-201+2981G>A (BUB1B-PAK6) | NP_001122100.1:n.-201+2981G>A |