Linked Data
dbSNP Id:
rs761104383
ExAC:
6:43016235 T / C
gnomAD v2:
6-43016235-T-C
gnomAD v3:
6-43048497-T-C
gnomAD v4:
6-43048497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43048497T>C , CM000668.2:g.43048497T>C | GRCh38 |
| NC_000006.11:g.43016235T>C , CM000668.1:g.43016235T>C | GRCh37 |
| NC_000006.10:g.43124213T>C | NCBI36 |
| NG_016205.1:g.10449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674112.2:c.1898A>G (CUL7) | ENSP00000501166.2:p.Lys633Arg | |
| ENST00000685042.1:c.1898A>G (CUL7) | ENSP00000509871.1:p.Lys633Arg | |
| ENST00000686442.1:n.2181A>G (CUL7) | ||
| ENST00000687225.1:c.1994A>G (CUL7) | ENSP00000509364.1:p.Lys665Arg | |
| ENST00000688302.1:n.2181A>G (CUL7) | ||
| ENST00000689256.1:n.2197A>G (CUL7) | ||
| ENST00000690231.1:c.1898A>G (CUL7) | ENSP00000508461.1:p.Lys633Arg | |
| ENST00000265348.9:c.1898A>G (CUL7) MANE Select | ENSP00000265348.4:p.Lys633Arg | |
| ENST00000673753.1:n.2232A>G (CUL7) | ||
| ENST00000674100.1:c.1994A>G (CUL7) | ENSP00000501292.1:p.Lys665Arg | |
| ENST00000674112.1:c.390A>G (CUL7) | ||
| ENST00000674134.1:c.1994A>G (CUL7) | ENSP00000501068.1:p.Lys665Arg | |
| ENST00000265348.7:c.1898A>G (CUL7) | ENSP00000265348.3:p.Lys633Arg | |
| ENST00000467906.5:c.-553+4989T>C (KLC4) | ENSP00000418759.1:n.-553+4989T>C | |
| ENST00000535468.1:c.2150A>G (CUL7) | ENSP00000438788.1:p.Lys717Arg | |
| NM_001168370.1:c.2150A>G (CUL7) | NP_001161842.1:p.Lys717Arg | |
| NM_014780.4:c.1898A>G (CUL7) | NP_055595.2:p.Lys633Arg | |
| XM_005249503.1:c.2054A>G (CUL7) | XP_005249560.1:p.Lys685Arg | |
| XM_006715285.1:c.1994A>G (CUL7) | XP_006715348.1:p.Lys665Arg | |
| XM_011515019.1:c.2150A>G (CUL7) | XP_011513321.1:p.Lys717Arg | |
| XM_011515020.1:c.2054A>G (CUL7) | XP_011513322.1:p.Lys685Arg | |
| XM_011515021.1:c.-285A>G (CUL7) | XP_011513323.1:n.-285A>G | |
| XM_005249503.3:c.2054A>G (CUL7) | XP_005249560.1:p.Lys685Arg | |
| XM_006715285.2:c.1994A>G (CUL7) | XP_006715348.1:p.Lys665Arg | |
| XM_011515019.2:c.2150A>G (CUL7) | XP_011513321.1:p.Lys717Arg | |
| XM_011515020.2:c.2054A>G (CUL7) | XP_011513322.1:p.Lys685Arg | |
| XM_017011533.1:c.2177A>G (CUL7) | XP_016867022.1:p.Lys726Arg | |
| XM_017011534.1:c.2177A>G (CUL7) | XP_016867023.1:p.Lys726Arg | |
| XM_017011535.1:c.2081A>G (CUL7) | XP_016867024.1:p.Lys694Arg | |
| XM_017011536.2:c.2021A>G (CUL7) | XP_016867025.1:p.Lys674Arg | |
| XM_017011537.2:c.1994A>G (CUL7) | XP_016867026.1:p.Lys665Arg | |
| XM_017011538.2:c.1925A>G (CUL7) | XP_016867027.1:p.Lys642Arg | |
| XM_017011539.2:c.1898A>G (CUL7) | XP_016867028.1:p.Lys633Arg | |
| XM_017011540.1:c.2177A>G (CUL7) | XP_016867029.1:p.Lys726Arg | |
| NM_001168370.2:c.1994A>G (CUL7) | NP_001161842.2:p.Lys665Arg | |
| NM_001374872.1:c.1994A>G (CUL7) | NP_001361801.1:p.Lys665Arg | |
| NM_001374873.1:c.1898A>G (CUL7) | NP_001361802.1:p.Lys633Arg | |
| NM_001374874.1:c.1898A>G (CUL7) | NP_001361803.1:p.Lys633Arg | |
| NM_014780.5:c.1898A>G (CUL7) MANE Select | NP_055595.2:p.Lys633Arg |