Linked Data
ClinVar Variation Id:
2848397
ClinVar RCV Id:
RCV003635228
dbSNP Id:
rs1856523267
gnomAD v3:
11-66526752-C-T
gnomAD v4:
11-66526752-C-T
MyVariant Identifiers:
chr11:g.66294223C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66526752C>T , CM000673.2:g.66526752C>T | GRCh38 |
| NC_000011.9:g.66294223C>T , CM000673.1:g.66294223C>T | GRCh37 |
| NC_000011.8:g.66050799C>T | NCBI36 |
| NG_009093.1:g.21105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1284C>T (BBS1) MANE Select | ENSP00000317469.7:p.Pro428= | |
| ENST00000318312.11:c.1284C>T (BBS1) | ENSP00000317469.7:p.Pro428= | |
| ENST00000393994.4:c.897C>T (BBS1) | ENSP00000377563.2:p.Pro299= | |
| ENST00000419755.3:c.1395C>T | ENSP00000398526.3:p.Pro465= | |
| ENST00000455748.6:c.993C>T (BBS1) | ENSP00000405764.2:p.Pro331= | |
| ENST00000526760.5:c.*991C>T (BBS1) | ENSP00000432140.1:n.*991C>T | |
| ENST00000526986.5:c.*21+184G>A (ZDHHC24) | ENSP00000431321.1:n.*21+184G>A | |
| ENST00000527959.1:n.428C>T (BBS1) | ||
| ENST00000529766.5:n.1291C>T (BBS1) | ||
| ENST00000529955.5:n.1255C>T (BBS1) | ||
| ENST00000534073.5:c.*21+184G>A (ZDHHC24) | ENSP00000436503.1:n.*21+184G>A | |
| ENST00000630659.2:c.*991C>T (BBS1) | ENSP00000486455.1:n.*991C>T | |
| NM_024649.4:c.1284C>T (BBS1) | NP_078925.3:p.Pro428= | |
| XM_005273874.3:c.*21+184G>A (ZDHHC24) | XP_005273931.1:n.*21+184G>A | |
| XM_011544894.1:c.*21+184G>A (ZDHHC24) | XP_011543196.1:n.*21+184G>A | |
| XM_011544895.1:c.560-2476G>A (ZDHHC24) | XP_011543197.1:n.560-2476G>A | |
| XR_949860.1:n.686+184G>A (ZDHHC24) | ||
| NM_001348571.1:c.*21+184G>A (ZDHHC24) | NP_001335500.1:n.*21+184G>A | |
| XM_005273874.4:c.*21+184G>A (ZDHHC24) | XP_005273931.1:n.*21+184G>A | |
| XM_011544894.2:c.*21+184G>A (ZDHHC24) | XP_011543196.1:n.*21+184G>A | |
| XR_001747823.2:n.741-2476G>A (ZDHHC24) | ||
| XR_949860.3:n.811+184G>A (ZDHHC24) | ||
| NM_024649.5:c.1284C>T (BBS1) MANE Select | NP_078925.3:p.Pro428= | |
| NM_001348571.2:c.*21+184G>A (ZDHHC24) | NP_001335500.1:n.*21+184G>A |