Linked Data
dbSNP Id:
rs374772872
ExAC:
6:43010603 C / G
gnomAD v2:
6-43010603-C-G
gnomAD v3:
6-43042865-C-G
gnomAD v4:
6-43042865-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43042865C>G , CM000668.2:g.43042865C>G | GRCh38 |
| NC_000006.11:g.43010603C>G , CM000668.1:g.43010603C>G | GRCh37 |
| NC_000006.10:g.43118581C>G | NCBI36 |
| NG_016205.1:g.16081G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1653G>C (CUL7) | ||
| ENST00000674112.2:c.3582G>C (CUL7) | ENSP00000501166.2:p.Leu1194Phe | |
| ENST00000685042.1:c.*238G>C (CUL7) | ENSP00000509871.1:n.*238G>C | |
| ENST00000686442.1:n.4143G>C (CUL7) | ||
| ENST00000687225.1:c.*1879G>C (CUL7) | ENSP00000509364.1:n.*1879G>C | |
| ENST00000688302.1:n.3865G>C (CUL7) | ||
| ENST00000689256.1:n.4159G>C (CUL7) | ||
| ENST00000690231.1:c.3582G>C (CUL7) | ENSP00000508461.1:p.Leu1194Phe | |
| ENST00000265348.9:c.3582G>C (CUL7) MANE Select | ENSP00000265348.4:p.Leu1194Phe | |
| ENST00000673725.1:c.1453G>C (CUL7) | ||
| ENST00000673753.1:n.4421G>C (CUL7) | ||
| ENST00000674100.1:c.3678G>C (CUL7) | ENSP00000501292.1:p.Leu1226Phe | |
| ENST00000674112.1:c.2074G>C (CUL7) | ||
| ENST00000674134.1:c.3678G>C (CUL7) | ENSP00000501068.1:p.Leu1226Phe | |
| ENST00000265348.7:c.3582G>C (CUL7) | ENSP00000265348.3:p.Leu1194Phe | |
| ENST00000467906.5:c.-1003-193C>G (KLC4) | ENSP00000418759.1:n.-1003-193C>G | |
| ENST00000535468.1:c.3834G>C (CUL7) | ENSP00000438788.1:p.Leu1278Phe | |
| NM_001168370.1:c.3834G>C (CUL7) | NP_001161842.1:p.Leu1278Phe | |
| NM_014780.4:c.3582G>C (CUL7) | NP_055595.2:p.Leu1194Phe | |
| XM_005249503.1:c.3738G>C (CUL7) | XP_005249560.1:p.Leu1246Phe | |
| XM_006715285.1:c.3678G>C (CUL7) | XP_006715348.1:p.Leu1226Phe | |
| XM_011515019.1:c.3834G>C (CUL7) | XP_011513321.1:p.Leu1278Phe | |
| XM_011515020.1:c.3738G>C (CUL7) | XP_011513322.1:p.Leu1246Phe | |
| XM_011515021.1:c.1443G>C (CUL7) | XP_011513323.1:p.Leu481Phe | |
| XM_005249503.3:c.3738G>C (CUL7) | XP_005249560.1:p.Leu1246Phe | |
| XM_006715285.2:c.3678G>C (CUL7) | XP_006715348.1:p.Leu1226Phe | |
| XM_011515019.2:c.3834G>C (CUL7) | XP_011513321.1:p.Leu1278Phe | |
| XM_011515020.2:c.3738G>C (CUL7) | XP_011513322.1:p.Leu1246Phe | |
| XM_017011533.1:c.3861G>C (CUL7) | XP_016867022.1:p.Leu1287Phe | |
| XM_017011534.1:c.3861G>C (CUL7) | XP_016867023.1:p.Leu1287Phe | |
| XM_017011535.1:c.3765G>C (CUL7) | XP_016867024.1:p.Leu1255Phe | |
| XM_017011536.2:c.3705G>C (CUL7) | XP_016867025.1:p.Leu1235Phe | |
| XM_017011537.2:c.3678G>C (CUL7) | XP_016867026.1:p.Leu1226Phe | |
| XM_017011538.2:c.3609G>C (CUL7) | XP_016867027.1:p.Leu1203Phe | |
| XM_017011539.2:c.3582G>C (CUL7) | XP_016867028.1:p.Leu1194Phe | |
| NM_001168370.2:c.3678G>C (CUL7) | NP_001161842.2:p.Leu1226Phe | |
| NM_001374872.1:c.3678G>C (CUL7) | NP_001361801.1:p.Leu1226Phe | |
| NM_001374873.1:c.3582G>C (CUL7) | NP_001361802.1:p.Leu1194Phe | |
| NM_001374874.1:c.3579G>C (CUL7) | NP_001361803.1:p.Leu1193Phe | |
| NM_014780.5:c.3582G>C (CUL7) MANE Select | NP_055595.2:p.Leu1194Phe |