Linked Data
dbSNP Id:
rs753917960
ExAC:
11:66297380 C / T
gnomAD v2:
11-66297380-C-T
gnomAD v3:
11-66529909-C-T
gnomAD v4:
11-66529909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66529909C>T , CM000673.2:g.66529909C>T | GRCh38 |
| NC_000011.9:g.66297380C>T , CM000673.1:g.66297380C>T | GRCh37 |
| NC_000011.8:g.66053956C>T | NCBI36 |
| NG_009093.1:g.24262C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.1430C>T (BBS1) MANE Select | ENSP00000317469.7:p.Pro477Leu | |
| ENST00000318312.11:c.1430C>T (BBS1) | ENSP00000317469.7:p.Pro477Leu | |
| ENST00000393994.4:c.1043C>T (BBS1) | ENSP00000377563.2:p.Pro348Leu | |
| ENST00000419755.3:c.1541C>T | ENSP00000398526.3:p.Pro514Leu | |
| ENST00000455748.6:c.1139C>T (BBS1) | ENSP00000405764.2:p.Pro380Leu | |
| ENST00000526760.5:c.*1137C>T (BBS1) | ENSP00000432140.1:n.*1137C>T | |
| ENST00000526986.5:c.560-421G>A (ZDHHC24) | ENSP00000431321.1:n.560-421G>A | |
| ENST00000529955.5:n.1401C>T (BBS1) | ||
| ENST00000534073.5:c.560-2903G>A (ZDHHC24) | ENSP00000436503.1:n.560-2903G>A | |
| ENST00000630659.2:c.*1137C>T (BBS1) | ENSP00000486455.1:n.*1137C>T | |
| NM_024649.4:c.1430C>T (BBS1) | NP_078925.3:p.Pro477Leu | |
| XM_005273874.3:c.560-2903G>A (ZDHHC24) | XP_005273931.1:n.560-2903G>A | |
| XM_011544891.1:c.560-421G>A (ZDHHC24) | XP_011543193.1:n.560-421G>A | |
| XM_011544894.1:c.560-2903G>A (ZDHHC24) | XP_011543196.1:n.560-2903G>A | |
| XM_011544895.1:c.560-5633G>A (ZDHHC24) | XP_011543197.1:n.560-5633G>A | |
| XR_949860.1:n.616-2903G>A (ZDHHC24) | ||
| NM_001348571.1:c.560-421G>A (ZDHHC24) | NP_001335500.1:n.560-421G>A | |
| XM_005273874.4:c.560-2903G>A (ZDHHC24) | XP_005273931.1:n.560-2903G>A | |
| XM_011544894.2:c.560-2903G>A (ZDHHC24) | XP_011543196.1:n.560-2903G>A | |
| XR_001747823.2:n.741-5633G>A (ZDHHC24) | ||
| XR_949860.3:n.741-2903G>A (ZDHHC24) | ||
| NM_024649.5:c.1430C>T (BBS1) MANE Select | NP_078925.3:p.Pro477Leu | |
| NM_001348571.2:c.560-421G>A (ZDHHC24) | NP_001335500.1:n.560-421G>A |