Linked Data
dbSNP Id:
rs966335429
gnomAD v2:
11-66294258-G-A
gnomAD v3:
11-66526787-G-A
gnomAD v4:
11-66526787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66526787G>A , CM000673.2:g.66526787G>A | GRCh38 |
| NC_000011.9:g.66294258G>A , CM000673.1:g.66294258G>A | GRCh37 |
| NC_000011.8:g.66050834G>A | NCBI36 |
| NG_009093.1:g.21140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1319G>A (BBS1) MANE Select | ENSP00000317469.7:p.Arg440Gln | |
| ENST00000318312.11:c.1319G>A (BBS1) | ENSP00000317469.7:p.Arg440Gln | |
| ENST00000393994.4:c.932G>A (BBS1) | ENSP00000377563.2:p.Arg311Gln | |
| ENST00000419755.3:c.1430G>A | ENSP00000398526.3:p.Arg477Gln | |
| ENST00000455748.6:c.1028G>A (BBS1) | ENSP00000405764.2:p.Arg343Gln | |
| ENST00000526760.5:c.*1026G>A (BBS1) | ENSP00000432140.1:n.*1026G>A | |
| ENST00000526986.5:c.*21+149C>T (ZDHHC24) | ENSP00000431321.1:n.*21+149C>T | |
| ENST00000527959.1:n.463G>A (BBS1) | ||
| ENST00000529766.5:n.1326G>A (BBS1) | ||
| ENST00000529955.5:n.1290G>A (BBS1) | ||
| ENST00000534073.5:c.*21+149C>T (ZDHHC24) | ENSP00000436503.1:n.*21+149C>T | |
| ENST00000630659.2:c.*1026G>A (BBS1) | ENSP00000486455.1:n.*1026G>A | |
| NM_024649.4:c.1319G>A (BBS1) | NP_078925.3:p.Arg440Gln | |
| XM_005273874.3:c.*21+149C>T (ZDHHC24) | XP_005273931.1:n.*21+149C>T | |
| XM_011544894.1:c.*21+149C>T (ZDHHC24) | XP_011543196.1:n.*21+149C>T | |
| XM_011544895.1:c.560-2511C>T (ZDHHC24) | XP_011543197.1:n.560-2511C>T | |
| XR_949860.1:n.686+149C>T (ZDHHC24) | ||
| NM_001348571.1:c.*21+149C>T (ZDHHC24) | NP_001335500.1:n.*21+149C>T | |
| XM_005273874.4:c.*21+149C>T (ZDHHC24) | XP_005273931.1:n.*21+149C>T | |
| XM_011544894.2:c.*21+149C>T (ZDHHC24) | XP_011543196.1:n.*21+149C>T | |
| XR_001747823.2:n.741-2511C>T (ZDHHC24) | ||
| XR_949860.3:n.811+149C>T (ZDHHC24) | ||
| NM_024649.5:c.1319G>A (BBS1) MANE Select | NP_078925.3:p.Arg440Gln | |
| NM_001348571.2:c.*21+149C>T (ZDHHC24) | NP_001335500.1:n.*21+149C>T |