Linked Data
ClinVar Variation Id:
282091
dbSNP Id:
rs141211365
ExAC:
6:43008712 C / T
gnomAD v2:
6-43008712-C-T
gnomAD v3:
6-43040974-C-T
gnomAD v4:
6-43040974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43040974C>T , CM000668.2:g.43040974C>T | GRCh38 |
| NC_000006.11:g.43008712C>T , CM000668.1:g.43008712C>T | GRCh37 |
| NC_000006.10:g.43116690C>T | NCBI36 |
| NG_016205.1:g.17972G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478630.2:n.1818G>A (CUL7) | ||
| ENST00000674112.2:c.3747G>A (CUL7) | ENSP00000501166.2:p.Leu1249= | |
| ENST00000685042.1:c.*403G>A (CUL7) | ENSP00000509871.1:n.*403G>A | |
| ENST00000686442.1:n.4308G>A (CUL7) | ||
| ENST00000687225.1:c.*2044G>A (CUL7) | ENSP00000509364.1:n.*2044G>A | |
| ENST00000688302.1:n.4030G>A (CUL7) | ||
| ENST00000689256.1:n.4324G>A (CUL7) | ||
| ENST00000690231.1:c.3747G>A (CUL7) | ENSP00000508461.1:p.Leu1249= | |
| ENST00000265348.9:c.3747G>A (CUL7) MANE Select | ENSP00000265348.4:p.Leu1249= | |
| ENST00000673725.1:c.1618G>A (CUL7) | ||
| ENST00000673753.1:n.4586G>A (CUL7) | ||
| ENST00000674100.1:c.3843G>A (CUL7) | ENSP00000501292.1:p.Leu1281= | |
| ENST00000674112.1:c.2239G>A (CUL7) | ||
| ENST00000674134.1:c.3843G>A (CUL7) | ENSP00000501068.1:p.Leu1281= | |
| ENST00000265348.7:c.3747G>A (CUL7) | ENSP00000265348.3:p.Leu1249= | |
| ENST00000467906.5:c.-1154C>T (KLC4) | ENSP00000418759.1:n.-1154C>T | |
| ENST00000535468.1:c.3999G>A (CUL7) | ENSP00000438788.1:p.Leu1333= | |
| NM_001168370.1:c.3999G>A (CUL7) | NP_001161842.1:p.Leu1333= | |
| NM_014780.4:c.3747G>A (CUL7) | NP_055595.2:p.Leu1249= | |
| XM_005249503.1:c.3903G>A (CUL7) | XP_005249560.1:p.Leu1301= | |
| XM_006715285.1:c.3843G>A (CUL7) | XP_006715348.1:p.Leu1281= | |
| XM_011515019.1:c.3999G>A (CUL7) | XP_011513321.1:p.Leu1333= | |
| XM_011515020.1:c.3903G>A (CUL7) | XP_011513322.1:p.Leu1301= | |
| XM_011515021.1:c.1608G>A (CUL7) | XP_011513323.1:p.Leu536= | |
| XM_005249503.3:c.3903G>A (CUL7) | XP_005249560.1:p.Leu1301= | |
| XM_006715285.2:c.3843G>A (CUL7) | XP_006715348.1:p.Leu1281= | |
| XM_011515019.2:c.3999G>A (CUL7) | XP_011513321.1:p.Leu1333= | |
| XM_011515020.2:c.3903G>A (CUL7) | XP_011513322.1:p.Leu1301= | |
| XM_017011533.1:c.4026G>A (CUL7) | XP_016867022.1:p.Leu1342= | |
| XM_017011534.1:c.4026G>A (CUL7) | XP_016867023.1:p.Leu1342= | |
| XM_017011535.1:c.3930G>A (CUL7) | XP_016867024.1:p.Leu1310= | |
| XM_017011536.2:c.3870G>A (CUL7) | XP_016867025.1:p.Leu1290= | |
| XM_017011537.2:c.3843G>A (CUL7) | XP_016867026.1:p.Leu1281= | |
| XM_017011538.2:c.3774G>A (CUL7) | XP_016867027.1:p.Leu1258= | |
| XM_017011539.2:c.3747G>A (CUL7) | XP_016867028.1:p.Leu1249= | |
| NM_001168370.2:c.3843G>A (CUL7) | NP_001161842.2:p.Leu1281= | |
| NM_001374872.1:c.3843G>A (CUL7) | NP_001361801.1:p.Leu1281= | |
| NM_001374873.1:c.3747G>A (CUL7) | NP_001361802.1:p.Leu1249= | |
| NM_001374874.1:c.3744G>A (CUL7) | NP_001361803.1:p.Leu1248= | |
| NM_014780.5:c.3747G>A (CUL7) MANE Select | NP_055595.2:p.Leu1249= |