Linked Data
ClinVar Variation Id:
434480
dbSNP Id:
rs528073027
ExAC:
11:66288761 C / T
gnomAD v2:
11-66288761-C-T
gnomAD v3:
11-66521290-C-T
gnomAD v4:
11-66521290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66521290C>T , CM000673.2:g.66521290C>T | GRCh38 |
| NC_000011.9:g.66288761C>T , CM000673.1:g.66288761C>T | GRCh37 |
| NC_000011.8:g.66045337C>T | NCBI36 |
| NG_009093.1:g.15643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.744C>T (BBS1) MANE Select | ENSP00000317469.7:p.Pro248= | |
| ENST00000318312.11:c.744C>T (BBS1) | ENSP00000317469.7:p.Pro248= | |
| ENST00000393994.4:c.723+1542C>T (BBS1) | ENSP00000377563.2:n.723+1542C>T | |
| ENST00000419755.3:c.855C>T | ENSP00000398526.3:p.Pro285= | |
| ENST00000455748.6:c.453C>T (BBS1) | ENSP00000405764.2:p.Pro151= | |
| ENST00000524458.5:c.*533C>T (BBS1) | ENSP00000436195.1:n.*533C>T | |
| ENST00000525809.5:c.471C>T (BBS1) | ENSP00000431187.1:p.Pro157= | |
| ENST00000526035.5:c.*447C>T (BBS1) | ENSP00000434197.1:n.*447C>T | |
| ENST00000526760.5:c.*451C>T (BBS1) | ENSP00000432140.1:n.*451C>T | |
| ENST00000526986.5:c.*198G>A (ZDHHC24) | ENSP00000431321.1:n.*198G>A | |
| ENST00000529766.5:n.751C>T (BBS1) | ||
| ENST00000529955.5:n.715C>T (BBS1) | ||
| ENST00000532283.1:n.578C>T (BBS1) | ||
| ENST00000532908.5:c.*404C>T (BBS1) | ENSP00000431866.1:n.*404C>T | |
| ENST00000533430.5:n.522C>T (BBS1) | ||
| ENST00000533557.5:c.*404C>T (BBS1) | ENSP00000434619.1:n.*404C>T | |
| ENST00000533644.5:c.*202C>T (BBS1) | ENSP00000436073.1:n.*202C>T | |
| ENST00000534073.5:c.*320G>A (ZDHHC24) | ENSP00000436503.1:n.*320G>A | |
| ENST00000630659.2:c.*451C>T (BBS1) | ENSP00000486455.1:n.*451C>T | |
| NM_024649.4:c.744C>T (BBS1) | NP_078925.3:p.Pro248= | |
| NM_001348571.1:c.*198G>A (ZDHHC24) | NP_001335500.1:n.*198G>A | |
| XR_001747823.2:n.1039G>A (ZDHHC24) | ||
| XR_949860.3:n.1110G>A (ZDHHC24) | ||
| NM_024649.5:c.744C>T (BBS1) MANE Select | NP_078925.3:p.Pro248= | |
| NM_001348571.2:c.*198G>A (ZDHHC24) | NP_001335500.1:n.*198G>A |