Linked Data
ClinVar Variation Id:
12147
dbSNP Id:
rs121917778
ExAC:
11:66298444 T / C
gnomAD v2:
11-66298444-T-C
gnomAD v3:
11-66530973-T-C
gnomAD v4:
11-66530973-T-C
PubMed:
PMID:12524598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66530973T>C , CM000673.2:g.66530973T>C | GRCh38 |
| NC_000011.9:g.66298444T>C , CM000673.1:g.66298444T>C | GRCh37 |
| NC_000011.8:g.66055020T>C | NCBI36 |
| NG_009093.1:g.25326T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1553T>C (BBS1) MANE Select | ENSP00000317469.7:p.Leu518Pro | |
| ENST00000318312.11:c.1553T>C (BBS1) | ENSP00000317469.7:p.Leu518Pro | |
| ENST00000393994.4:c.1166T>C (BBS1) | ENSP00000377563.2:p.Leu389Pro | |
| ENST00000419755.3:c.1664T>C | ENSP00000398526.3:p.Leu555Pro | |
| ENST00000455748.6:c.1262T>C (BBS1) | ENSP00000405764.2:p.Leu421Pro | |
| ENST00000526760.5:c.*1260T>C (BBS1) | ENSP00000432140.1:n.*1260T>C | |
| ENST00000526986.5:c.560-1485A>G (ZDHHC24) | ENSP00000431321.1:n.560-1485A>G | |
| ENST00000529955.5:n.1524T>C (BBS1) | ||
| ENST00000534073.5:c.560-3967A>G (ZDHHC24) | ENSP00000436503.1:n.560-3967A>G | |
| ENST00000630659.2:c.*1260T>C (BBS1) | ENSP00000486455.1:n.*1260T>C | |
| NM_024649.4:c.1553T>C (BBS1) | NP_078925.3:p.Leu518Pro | |
| XM_005273874.3:c.560-3967A>G (ZDHHC24) | XP_005273931.1:n.560-3967A>G | |
| XM_011544891.1:c.560-1485A>G (ZDHHC24) | XP_011543193.1:n.560-1485A>G | |
| XM_011544894.1:c.560-3967A>G (ZDHHC24) | XP_011543196.1:n.560-3967A>G | |
| XM_011544895.1:c.560-6697A>G (ZDHHC24) | XP_011543197.1:n.560-6697A>G | |
| XR_949860.1:n.616-3967A>G (ZDHHC24) | ||
| NM_001348571.1:c.560-1485A>G (ZDHHC24) | NP_001335500.1:n.560-1485A>G | |
| XM_005273874.4:c.560-3967A>G (ZDHHC24) | XP_005273931.1:n.560-3967A>G | |
| XM_011544894.2:c.560-3967A>G (ZDHHC24) | XP_011543196.1:n.560-3967A>G | |
| XR_001747823.2:n.741-6697A>G (ZDHHC24) | ||
| XR_949860.3:n.741-3967A>G (ZDHHC24) | ||
| NM_024649.5:c.1553T>C (BBS1) MANE Select | NP_078925.3:p.Leu518Pro | |
| NM_001348571.2:c.560-1485A>G (ZDHHC24) | NP_001335500.1:n.560-1485A>G |