Linked Data
ClinVar Variation Id:
305469
dbSNP Id:
rs200577824
ExAC:
11:66294133 C / A
gnomAD v2:
11-66294133-C-A
gnomAD v3:
11-66526662-C-A
gnomAD v4:
11-66526662-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66526662C>A , CM000673.2:g.66526662C>A | GRCh38 |
| NC_000011.9:g.66294133C>A , CM000673.1:g.66294133C>A | GRCh37 |
| NC_000011.8:g.66050709C>A | NCBI36 |
| NG_009093.1:g.21015C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1194C>A (BBS1) MANE Select | ENSP00000317469.7:p.Ile398= | |
| ENST00000318312.11:c.1194C>A (BBS1) | ENSP00000317469.7:p.Ile398= | |
| ENST00000393994.4:c.807C>A (BBS1) | ENSP00000377563.2:p.Ile269= | |
| ENST00000419755.3:c.1305C>A | ENSP00000398526.3:p.Ile435= | |
| ENST00000455748.6:c.903C>A (BBS1) | ENSP00000405764.2:p.Ile301= | |
| ENST00000526760.5:c.*901C>A (BBS1) | ENSP00000432140.1:n.*901C>A | |
| ENST00000526986.5:c.*21+274G>T (ZDHHC24) | ENSP00000431321.1:n.*21+274G>T | |
| ENST00000527959.1:n.338C>A (BBS1) | ||
| ENST00000529766.5:n.1201C>A (BBS1) | ||
| ENST00000529955.5:n.1165C>A (BBS1) | ||
| ENST00000534073.5:c.*21+274G>T (ZDHHC24) | ENSP00000436503.1:n.*21+274G>T | |
| ENST00000630659.2:c.*901C>A (BBS1) | ENSP00000486455.1:n.*901C>A | |
| NM_024649.4:c.1194C>A (BBS1) | NP_078925.3:p.Ile398= | |
| XM_005273874.3:c.*21+274G>T (ZDHHC24) | XP_005273931.1:n.*21+274G>T | |
| XM_011544894.1:c.*21+274G>T (ZDHHC24) | XP_011543196.1:n.*21+274G>T | |
| XM_011544895.1:c.560-2386G>T (ZDHHC24) | XP_011543197.1:n.560-2386G>T | |
| XR_949860.1:n.686+274G>T (ZDHHC24) | ||
| NM_001348571.1:c.*21+274G>T (ZDHHC24) | NP_001335500.1:n.*21+274G>T | |
| XM_005273874.4:c.*21+274G>T (ZDHHC24) | XP_005273931.1:n.*21+274G>T | |
| XM_011544894.2:c.*21+274G>T (ZDHHC24) | XP_011543196.1:n.*21+274G>T | |
| XR_001747823.2:n.741-2386G>T (ZDHHC24) | ||
| XR_949860.3:n.811+274G>T (ZDHHC24) | ||
| NM_024649.5:c.1194C>A (BBS1) MANE Select | NP_078925.3:p.Ile398= | |
| NM_001348571.2:c.*21+274G>T (ZDHHC24) | NP_001335500.1:n.*21+274G>T |