Linked Data
ClinVar Variation Id:
288534
dbSNP Id:
rs765829383
ExAC:
11:66294273 G / C
gnomAD v2:
11-66294273-G-C
gnomAD v4:
11-66526802-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66526802G>C , CM000673.2:g.66526802G>C | GRCh38 |
| NC_000011.9:g.66294273G>C , CM000673.1:g.66294273G>C | GRCh37 |
| NC_000011.8:g.66050849G>C | NCBI36 |
| NG_009093.1:g.21155G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1334G>C (BBS1) MANE Select | ENSP00000317469.7:p.Gly445Ala | |
| ENST00000318312.11:c.1334G>C (BBS1) | ENSP00000317469.7:p.Gly445Ala | |
| ENST00000393994.4:c.947G>C (BBS1) | ENSP00000377563.2:p.Gly316Ala | |
| ENST00000419755.3:c.1445G>C | ENSP00000398526.3:p.Gly482Ala | |
| ENST00000455748.6:c.1043G>C (BBS1) | ENSP00000405764.2:p.Gly348Ala | |
| ENST00000526760.5:c.*1041G>C (BBS1) | ENSP00000432140.1:n.*1041G>C | |
| ENST00000526986.5:c.*21+134C>G (ZDHHC24) | ENSP00000431321.1:n.*21+134C>G | |
| ENST00000527959.1:n.478G>C (BBS1) | ||
| ENST00000529766.5:n.1341G>C (BBS1) | ||
| ENST00000529955.5:n.1305G>C (BBS1) | ||
| ENST00000534073.5:c.*21+134C>G (ZDHHC24) | ENSP00000436503.1:n.*21+134C>G | |
| ENST00000630659.2:c.*1041G>C (BBS1) | ENSP00000486455.1:n.*1041G>C | |
| NM_024649.4:c.1334G>C (BBS1) | NP_078925.3:p.Gly445Ala | |
| XM_005273874.3:c.*21+134C>G (ZDHHC24) | XP_005273931.1:n.*21+134C>G | |
| XM_011544894.1:c.*21+134C>G (ZDHHC24) | XP_011543196.1:n.*21+134C>G | |
| XM_011544895.1:c.560-2526C>G (ZDHHC24) | XP_011543197.1:n.560-2526C>G | |
| XR_949860.1:n.686+134C>G (ZDHHC24) | ||
| NM_001348571.1:c.*21+134C>G (ZDHHC24) | NP_001335500.1:n.*21+134C>G | |
| XM_005273874.4:c.*21+134C>G (ZDHHC24) | XP_005273931.1:n.*21+134C>G | |
| XM_011544894.2:c.*21+134C>G (ZDHHC24) | XP_011543196.1:n.*21+134C>G | |
| XR_001747823.2:n.741-2526C>G (ZDHHC24) | ||
| XR_949860.3:n.811+134C>G (ZDHHC24) | ||
| NM_024649.5:c.1334G>C (BBS1) MANE Select | NP_078925.3:p.Gly445Ala | |
| NM_001348571.2:c.*21+134C>G (ZDHHC24) | NP_001335500.1:n.*21+134C>G |