Linked Data
dbSNP Id:
rs1266361363
gnomAD v2:
11-66291221-G-A
gnomAD v4:
11-66523750-G-A
COSMIC:
COSM1246003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523750G>A , CM000673.2:g.66523750G>A | GRCh38 |
| NC_000011.9:g.66291221G>A , CM000673.1:g.66291221G>A | GRCh37 |
| NC_000011.8:g.66047797G>A | NCBI36 |
| NG_009093.1:g.18103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.978G>A (BBS1) MANE Select | ENSP00000317469.7:p.Met326Ile | |
| ENST00000318312.11:c.978G>A (BBS1) | ENSP00000317469.7:p.Met326Ile | |
| ENST00000393994.4:c.724-2373G>A (BBS1) | ENSP00000377563.2:n.724-2373G>A | |
| ENST00000419755.3:c.1089G>A | ENSP00000398526.3:p.Met363Ile | |
| ENST00000455748.6:c.687G>A (BBS1) | ENSP00000405764.2:p.Met229Ile | |
| ENST00000526760.5:c.*685G>A (BBS1) | ENSP00000432140.1:n.*685G>A | |
| ENST00000526986.5:c.*22-2284C>T (ZDHHC24) | ENSP00000431321.1:n.*22-2284C>T | |
| ENST00000527959.1:n.122G>A (BBS1) | ||
| ENST00000529766.5:n.985G>A (BBS1) | ||
| ENST00000529895.1:n.427G>A (BBS1) | ||
| ENST00000529955.5:n.949G>A (BBS1) | ||
| ENST00000532908.5:c.*638G>A (BBS1) | ENSP00000431866.1:n.*638G>A | |
| ENST00000534073.5:c.*143+405C>T (ZDHHC24) | ENSP00000436503.1:n.*143+405C>T | |
| ENST00000630659.2:c.*685G>A (BBS1) | ENSP00000486455.1:n.*685G>A | |
| NM_024649.4:c.978G>A (BBS1) | NP_078925.3:p.Met326Ile | |
| XM_005273874.3:c.*22-2284C>T (ZDHHC24) | XP_005273931.1:n.*22-2284C>T | |
| XR_949860.1:n.808+405C>T (ZDHHC24) | ||
| NM_001348571.1:c.*22-2284C>T (ZDHHC24) | NP_001335500.1:n.*22-2284C>T | |
| XM_005273874.4:c.*22-2284C>T (ZDHHC24) | XP_005273931.1:n.*22-2284C>T | |
| XR_001747823.2:n.862+405C>T (ZDHHC24) | ||
| XR_949860.3:n.933+405C>T (ZDHHC24) | ||
| NM_024649.5:c.978G>A (BBS1) MANE Select | NP_078925.3:p.Met326Ile | |
| NM_001348571.2:c.*22-2284C>T (ZDHHC24) | NP_001335500.1:n.*22-2284C>T |