Linked Data
ClinVar Variation Id:
502473
dbSNP Id:
rs147326417
ExAC:
6:43016274 G / A
gnomAD v2:
6-43016274-G-A
gnomAD v3:
6-43048536-G-A
gnomAD v4:
6-43048536-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43048536G>A , CM000668.2:g.43048536G>A | GRCh38 |
| NC_000006.11:g.43016274G>A , CM000668.1:g.43016274G>A | GRCh37 |
| NC_000006.10:g.43124252G>A | NCBI36 |
| NG_016205.1:g.10410C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674112.2:c.1859C>T (CUL7) | ENSP00000501166.2:p.Pro620Leu | |
| ENST00000685042.1:c.1859C>T (CUL7) | ENSP00000509871.1:p.Pro620Leu | |
| ENST00000686442.1:n.2142C>T (CUL7) | ||
| ENST00000687225.1:c.1955C>T (CUL7) | ENSP00000509364.1:p.Pro652Leu | |
| ENST00000688302.1:n.2142C>T (CUL7) | ||
| ENST00000689256.1:n.2158C>T (CUL7) | ||
| ENST00000690231.1:c.1859C>T (CUL7) | ENSP00000508461.1:p.Pro620Leu | |
| ENST00000265348.9:c.1859C>T (CUL7) MANE Select | ENSP00000265348.4:p.Pro620Leu | |
| ENST00000673753.1:n.2193C>T (CUL7) | ||
| ENST00000674100.1:c.1955C>T (CUL7) | ENSP00000501292.1:p.Pro652Leu | |
| ENST00000674112.1:c.351C>T (CUL7) | ||
| ENST00000674134.1:c.1955C>T (CUL7) | ENSP00000501068.1:p.Pro652Leu | |
| ENST00000265348.7:c.1859C>T (CUL7) | ENSP00000265348.3:p.Pro620Leu | |
| ENST00000467906.5:c.-553+5028G>A (KLC4) | ENSP00000418759.1:n.-553+5028G>A | |
| ENST00000535468.1:c.2111C>T (CUL7) | ENSP00000438788.1:p.Pro704Leu | |
| NM_001168370.1:c.2111C>T (CUL7) | NP_001161842.1:p.Pro704Leu | |
| NM_014780.4:c.1859C>T (CUL7) | NP_055595.2:p.Pro620Leu | |
| XM_005249503.1:c.2015C>T (CUL7) | XP_005249560.1:p.Pro672Leu | |
| XM_006715285.1:c.1955C>T (CUL7) | XP_006715348.1:p.Pro652Leu | |
| XM_011515019.1:c.2111C>T (CUL7) | XP_011513321.1:p.Pro704Leu | |
| XM_011515020.1:c.2015C>T (CUL7) | XP_011513322.1:p.Pro672Leu | |
| XM_011515021.1:c.-324C>T (CUL7) | XP_011513323.1:n.-324C>T | |
| XM_005249503.3:c.2015C>T (CUL7) | XP_005249560.1:p.Pro672Leu | |
| XM_006715285.2:c.1955C>T (CUL7) | XP_006715348.1:p.Pro652Leu | |
| XM_011515019.2:c.2111C>T (CUL7) | XP_011513321.1:p.Pro704Leu | |
| XM_011515020.2:c.2015C>T (CUL7) | XP_011513322.1:p.Pro672Leu | |
| XM_017011533.1:c.2138C>T (CUL7) | XP_016867022.1:p.Pro713Leu | |
| XM_017011534.1:c.2138C>T (CUL7) | XP_016867023.1:p.Pro713Leu | |
| XM_017011535.1:c.2042C>T (CUL7) | XP_016867024.1:p.Pro681Leu | |
| XM_017011536.2:c.1982C>T (CUL7) | XP_016867025.1:p.Pro661Leu | |
| XM_017011537.2:c.1955C>T (CUL7) | XP_016867026.1:p.Pro652Leu | |
| XM_017011538.2:c.1886C>T (CUL7) | XP_016867027.1:p.Pro629Leu | |
| XM_017011539.2:c.1859C>T (CUL7) | XP_016867028.1:p.Pro620Leu | |
| XM_017011540.1:c.2138C>T (CUL7) | XP_016867029.1:p.Pro713Leu | |
| NM_001168370.2:c.1955C>T (CUL7) | NP_001161842.2:p.Pro652Leu | |
| NM_001374872.1:c.1955C>T (CUL7) | NP_001361801.1:p.Pro652Leu | |
| NM_001374873.1:c.1859C>T (CUL7) | NP_001361802.1:p.Pro620Leu | |
| NM_001374874.1:c.1859C>T (CUL7) | NP_001361803.1:p.Pro620Leu | |
| NM_014780.5:c.1859C>T (CUL7) MANE Select | NP_055595.2:p.Pro620Leu |