Linked Data
ClinVar Variation Id:
135077
ClinVar RCV Id:
RCV000121866
dbSNP Id:
rs587778624
gnomAD v2:
6-106547211-G-A
gnomAD v4:
6-106099336-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106099336G>A , CM000668.2:g.106099336G>A | GRCh38 |
| NC_000006.11:g.106547211G>A , CM000668.1:g.106547211G>A | GRCh37 |
| NC_000006.10:g.106653904G>A | NCBI36 |
| NG_029115.1:g.18017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369096.9:c.448G>A (PRDM1) MANE Select | ENSP00000358092.4:p.Gly150Ser | |
| ENST00000636335.1:c.458-21021C>T (ATG5) | ENSP00000490221.1:n.458-21021C>T | |
| ENST00000636437.1:c.458-52511C>T (ATG5) | ENSP00000490376.1:n.458-52511C>T | |
| ENST00000648754.1:c.490G>A (PRDM1) | ENSP00000498029.1:p.Gly164Ser | |
| ENST00000651185.1:c.340G>A (PRDM1) | ENSP00000498716.1:p.Gly114Ser | |
| ENST00000652320.1:c.340G>A (PRDM1) | ENSP00000498580.1:p.Gly114Ser | |
| ENST00000369089.3:c.46G>A (PRDM1) | ENSP00000358085.3:p.Gly16Ser | |
| ENST00000369091.6:c.340G>A (PRDM1) | ENSP00000358087.2:p.Gly114Ser | |
| ENST00000369096.8:c.448G>A (PRDM1) | ENSP00000358092.4:p.Gly150Ser | |
| ENST00000450060.5:c.85G>A (PRDM1) | ENSP00000399772.1:p.Gly29Ser | |
| ENST00000481163.1:n.207G>A (PRDM1) | ||
| ENST00000613999.4:c.340G>A (PRDM1) | ENSP00000478294.1:p.Gly114Ser | |
| NM_001198.3:c.448G>A (PRDM1) | NP_001189.2:p.Gly150Ser | |
| NM_182907.2:c.46G>A (PRDM1) | NP_878911.1:p.Gly16Ser | |
| XM_005267094.3:c.-27G>A (PRDM1) | XP_005267151.1:n.-27G>A | |
| XM_006715550.2:c.490G>A (PRDM1) | XP_006715613.1:p.Gly164Ser | |
| XM_011536062.1:c.490G>A (PRDM1) | XP_011534364.1:p.Gly164Ser | |
| XM_011536063.1:c.340G>A (PRDM1) | XP_011534365.1:p.Gly114Ser | |
| XM_011536064.1:c.-27G>A (PRDM1) | XP_011534366.1:n.-27G>A | |
| XM_006715550.3:c.490G>A (PRDM1) | XP_006715613.1:p.Gly164Ser | |
| XM_011536062.3:c.490G>A (PRDM1) | XP_011534364.1:p.Gly164Ser | |
| XM_011536063.2:c.340G>A (PRDM1) | XP_011534365.1:p.Gly114Ser | |
| XM_011536064.3:c.-27G>A (PRDM1) | XP_011534366.1:n.-27G>A | |
| XM_017011187.1:c.340G>A (PRDM1) | XP_016866676.1:p.Gly114Ser | |
| NM_001198.4:c.448G>A (PRDM1) MANE Select | NP_001189.2:p.Gly150Ser | |
| NM_182907.3:c.46G>A (PRDM1) | NP_878911.1:p.Gly16Ser |