Linked Data
ClinVar Variation Id:
328246
ClinVar RCV Id:
RCV000264201
dbSNP Id:
rs886054225
gnomAD v4:
19-1228333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1228333C>T , CM000681.2:g.1228333C>T | GRCh38 |
| NC_000019.9:g.1228332C>T , CM000681.1:g.1228332C>T | GRCh37 |
| NC_000019.8:g.1179332C>T | NCBI36 |
| NG_007460.2:g.43927C>T , LRG_319:g.43927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585748.3:c.*757C>T (STK11) | ENSP00000477641.2:n.*757C>T | |
| ENST00000585851.2:c.*757C>T (STK11) | ENSP00000467912.2:n.*757C>T | |
| ENST00000650044.2:c.*846G>A (CBARP) MANE Select | ENSP00000497208.1:n.*846G>A | |
| ENST00000326873.12:c.*757C>T (STK11) MANE Select | ENSP00000324856.6:n.*757C>T | |
| ENST00000648750.1:c.*2667G>A (CBARP) | ENSP00000496899.1:n.*2667G>A | |
| ENST00000650044.1:c.*846G>A (CBARP) | ENSP00000497208.1:n.*846G>A | |
| ENST00000326873.11:c.*757C>T (STK11) | ENSP00000324856.6:n.*757C>T | |
| ENST00000590083.5:c.*2560G>A (CBARP) | ENSP00000465260.1:n.*2560G>A | |
| NM_000455.4:c.*757C>T , LRG_319t1:c.*757C>T (STK11) | NP_000446.1:n.*757C>T | |
| XM_005259617.1:c.*251C>T (STK11) | XP_005259674.1:n.*251C>T | |
| XM_011528209.1:c.*251C>T (STK11) | XP_011526511.1:n.*251C>T | |
| XM_005259617.3:c.*251C>T (STK11) | XP_005259674.1:n.*251C>T | |
| XM_017026555.1:c.*846G>A (CBARP) | XP_016882044.1:n.*846G>A | |
| XM_017026556.1:c.*846G>A (CBARP) | XP_016882045.1:n.*846G>A | |
| XM_017026557.1:c.*846G>A (CBARP) | XP_016882046.1:n.*846G>A | |
| XM_017026558.1:c.*846G>A (CBARP) | XP_016882047.1:n.*846G>A | |
| XR_001753738.2:n.2865C>T (STK11) | ||
| XR_001753740.2:n.2835C>T (STK11) | ||
| NM_000455.5:c.*757C>T (STK11) MANE Select | NP_000446.1:n.*757C>T | |
| NM_152769.3:c.*2560G>A (CBARP) | NP_689982.3:n.*2560G>A | |
| NM_001393918.1:c.*846G>A (CBARP) MANE Select | NP_001380847.1:n.*846G>A |