Linked Data
dbSNP Id:
rs750639736
ExAC:
6:43010900 T / G
gnomAD v2:
6-43010900-T-G
gnomAD v4:
6-43043162-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43043162T>G , CM000668.2:g.43043162T>G | GRCh38 |
| NC_000006.11:g.43010900T>G , CM000668.1:g.43010900T>G | GRCh37 |
| NC_000006.10:g.43118878T>G | NCBI36 |
| NG_016205.1:g.15784A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1445A>C (CUL7) | ||
| ENST00000674112.2:c.3374A>C (CUL7) | ENSP00000501166.2:p.His1125Pro | |
| ENST00000685042.1:c.*30A>C (CUL7) | ENSP00000509871.1:n.*30A>C | |
| ENST00000686442.1:n.3935A>C (CUL7) | ||
| ENST00000687225.1:c.*1671A>C (CUL7) | ENSP00000509364.1:n.*1671A>C | |
| ENST00000688302.1:n.3657A>C (CUL7) | ||
| ENST00000689256.1:n.3951A>C (CUL7) | ||
| ENST00000690231.1:c.3374A>C (CUL7) | ENSP00000508461.1:p.His1125Pro | |
| ENST00000265348.9:c.3374A>C (CUL7) MANE Select | ENSP00000265348.4:p.His1125Pro | |
| ENST00000673725.1:c.1323A>C (CUL7) | ||
| ENST00000673753.1:n.4213A>C (CUL7) | ||
| ENST00000674100.1:c.3470A>C (CUL7) | ENSP00000501292.1:p.His1157Pro | |
| ENST00000674112.1:c.1866A>C (CUL7) | ||
| ENST00000674134.1:c.3470A>C (CUL7) | ENSP00000501068.1:p.His1157Pro | |
| ENST00000265348.7:c.3374A>C (CUL7) | ENSP00000265348.3:p.His1125Pro | |
| ENST00000467906.5:c.-899T>G (KLC4) | ENSP00000418759.1:n.-899T>G | |
| ENST00000535468.1:c.3626A>C (CUL7) | ENSP00000438788.1:p.His1209Pro | |
| NM_001168370.1:c.3626A>C (CUL7) | NP_001161842.1:p.His1209Pro | |
| NM_014780.4:c.3374A>C (CUL7) | NP_055595.2:p.His1125Pro | |
| XM_005249503.1:c.3530A>C (CUL7) | XP_005249560.1:p.His1177Pro | |
| XM_006715285.1:c.3470A>C (CUL7) | XP_006715348.1:p.His1157Pro | |
| XM_011515019.1:c.3626A>C (CUL7) | XP_011513321.1:p.His1209Pro | |
| XM_011515020.1:c.3530A>C (CUL7) | XP_011513322.1:p.His1177Pro | |
| XM_011515021.1:c.1235A>C (CUL7) | XP_011513323.1:p.His412Pro | |
| XM_005249503.3:c.3530A>C (CUL7) | XP_005249560.1:p.His1177Pro | |
| XM_006715285.2:c.3470A>C (CUL7) | XP_006715348.1:p.His1157Pro | |
| XM_011515019.2:c.3626A>C (CUL7) | XP_011513321.1:p.His1209Pro | |
| XM_011515020.2:c.3530A>C (CUL7) | XP_011513322.1:p.His1177Pro | |
| XM_017011533.1:c.3653A>C (CUL7) | XP_016867022.1:p.His1218Pro | |
| XM_017011534.1:c.3653A>C (CUL7) | XP_016867023.1:p.His1218Pro | |
| XM_017011535.1:c.3557A>C (CUL7) | XP_016867024.1:p.His1186Pro | |
| XM_017011536.2:c.3497A>C (CUL7) | XP_016867025.1:p.His1166Pro | |
| XM_017011537.2:c.3470A>C (CUL7) | XP_016867026.1:p.His1157Pro | |
| XM_017011538.2:c.3401A>C (CUL7) | XP_016867027.1:p.His1134Pro | |
| XM_017011539.2:c.3374A>C (CUL7) | XP_016867028.1:p.His1125Pro | |
| NM_001168370.2:c.3470A>C (CUL7) | NP_001161842.2:p.His1157Pro | |
| NM_001374872.1:c.3470A>C (CUL7) | NP_001361801.1:p.His1157Pro | |
| NM_001374873.1:c.3374A>C (CUL7) | NP_001361802.1:p.His1125Pro | |
| NM_001374874.1:c.3371A>C (CUL7) | NP_001361803.1:p.His1124Pro | |
| NM_014780.5:c.3374A>C (CUL7) MANE Select | NP_055595.2:p.His1125Pro |