Linked Data
ClinVar Variation Id:
370653
dbSNP Id:
rs1057516661
gnomAD v2:
11-66291194-G-A
gnomAD v3:
11-66523723-G-A
gnomAD v4:
11-66523723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523723G>A , CM000673.2:g.66523723G>A | GRCh38 |
| NC_000011.9:g.66291194G>A , CM000673.1:g.66291194G>A | GRCh37 |
| NC_000011.8:g.66047770G>A | NCBI36 |
| NG_009093.1:g.18076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.952-1G>A (BBS1) MANE Select | ENSP00000317469.7:n.952-1G>A | |
| ENST00000318312.11:c.952-1G>A (BBS1) | ENSP00000317469.7:n.952-1G>A | |
| ENST00000393994.4:c.724-2400G>A (BBS1) | ENSP00000377563.2:n.724-2400G>A | |
| ENST00000419755.3:c.1063-1G>A | ENSP00000398526.3:n.1063-1G>A | |
| ENST00000455748.6:c.661-1G>A (BBS1) | ENSP00000405764.2:n.661-1G>A | |
| ENST00000526760.5:c.*659-1G>A (BBS1) | ENSP00000432140.1:n.*659-1G>A | |
| ENST00000526986.5:c.*22-2257C>T (ZDHHC24) | ENSP00000431321.1:n.*22-2257C>T | |
| ENST00000527959.1:n.96-1G>A (BBS1) | ||
| ENST00000529766.5:n.959-1G>A (BBS1) | ||
| ENST00000529895.1:n.401-1G>A (BBS1) | ||
| ENST00000529955.5:n.923-1G>A (BBS1) | ||
| ENST00000532908.5:c.*612-1G>A (BBS1) | ENSP00000431866.1:n.*612-1G>A | |
| ENST00000534073.5:c.*143+432C>T (ZDHHC24) | ENSP00000436503.1:n.*143+432C>T | |
| ENST00000630659.2:c.*659-1G>A (BBS1) | ENSP00000486455.1:n.*659-1G>A | |
| NM_024649.4:c.952-1G>A (BBS1) | NP_078925.3:n.952-1G>A | |
| XM_005273874.3:c.*22-2257C>T (ZDHHC24) | XP_005273931.1:n.*22-2257C>T | |
| XR_949860.1:n.808+432C>T (ZDHHC24) | ||
| NM_001348571.1:c.*22-2257C>T (ZDHHC24) | NP_001335500.1:n.*22-2257C>T | |
| XM_005273874.4:c.*22-2257C>T (ZDHHC24) | XP_005273931.1:n.*22-2257C>T | |
| XR_001747823.2:n.862+432C>T (ZDHHC24) | ||
| XR_949860.3:n.933+432C>T (ZDHHC24) | ||
| NM_024649.5:c.952-1G>A (BBS1) MANE Select | NP_078925.3:n.952-1G>A | |
| NM_001348571.2:c.*22-2257C>T (ZDHHC24) | NP_001335500.1:n.*22-2257C>T |