Linked Data
ClinVar Variation Id:
370358
ClinVar RCV Id:
RCV002523851
dbSNP Id:
rs1057516427
gnomAD v4:
11-66523480-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523480C>A , CM000673.2:g.66523480C>A | GRCh38 |
| NC_000011.9:g.66290951C>A , CM000673.1:g.66290951C>A | GRCh37 |
| NC_000011.8:g.66047527C>A | NCBI36 |
| NG_009093.1:g.17833C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.855C>A (BBS1) MANE Select | ENSP00000317469.7:p.Cys285Ter | |
| ENST00000318312.11:c.855C>A (BBS1) | ENSP00000317469.7:p.Cys285Ter | |
| ENST00000393994.4:c.724-2643C>A (BBS1) | ENSP00000377563.2:n.724-2643C>A | |
| ENST00000419755.3:c.966C>A | ENSP00000398526.3:p.Cys322Ter | |
| ENST00000455748.6:c.564C>A (BBS1) | ENSP00000405764.2:p.Cys188Ter | |
| ENST00000524458.5:c.*644C>A (BBS1) | ENSP00000436195.1:n.*644C>A | |
| ENST00000524884.1:n.540C>A (BBS1) | ||
| ENST00000526760.5:c.*562C>A (BBS1) | ENSP00000432140.1:n.*562C>A | |
| ENST00000526986.5:c.*22-2014G>T (ZDHHC24) | ENSP00000431321.1:n.*22-2014G>T | |
| ENST00000529766.5:n.862C>A (BBS1) | ||
| ENST00000529895.1:n.304C>A (BBS1) | ||
| ENST00000529955.5:n.826C>A (BBS1) | ||
| ENST00000532908.5:c.*515C>A (BBS1) | ENSP00000431866.1:n.*515C>A | |
| ENST00000533557.5:c.*709C>A (BBS1) | ENSP00000434619.1:n.*709C>A | |
| ENST00000533644.5:c.*313C>A (BBS1) | ENSP00000436073.1:n.*313C>A | |
| ENST00000534073.5:c.*143+675G>T (ZDHHC24) | ENSP00000436503.1:n.*143+675G>T | |
| ENST00000630659.2:c.*562C>A (BBS1) | ENSP00000486455.1:n.*562C>A | |
| NM_024649.4:c.855C>A (BBS1) | NP_078925.3:p.Cys285Ter | |
| XM_005273874.3:c.*22-2014G>T (ZDHHC24) | XP_005273931.1:n.*22-2014G>T | |
| XR_949860.1:n.808+675G>T (ZDHHC24) | ||
| NM_001348571.1:c.*22-2014G>T (ZDHHC24) | NP_001335500.1:n.*22-2014G>T | |
| XM_005273874.4:c.*22-2014G>T (ZDHHC24) | XP_005273931.1:n.*22-2014G>T | |
| XR_001747823.2:n.862+675G>T (ZDHHC24) | ||
| XR_949860.3:n.933+675G>T (ZDHHC24) | ||
| NM_024649.5:c.855C>A (BBS1) MANE Select | NP_078925.3:p.Cys285Ter | |
| NM_001348571.2:c.*22-2014G>T (ZDHHC24) | NP_001335500.1:n.*22-2014G>T |