Canonical Allele Identifier: CA201459
Gene: CUL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 194968
dbSNP Id: rs201135654

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43042957G>A , CM000668.2:g.43042957G>A GRCh38
NC_000006.11:g.43010695G>A , CM000668.1:g.43010695G>A GRCh37
NC_000006.10:g.43118673G>A NCBI36
NG_016205.1:g.15989C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265348.9:c.3490C>T MANE Select ENSP00000265348.4:p.Arg1164Trp
ENST00000673725.1:n.1412-51C>T
ENST00000673753.1:n.4329C>T
ENST00000674100.1:c.3586C>T ENSP00000501292.1:p.Arg1196Trp
ENST00000674112.1:n.1982C>T
ENST00000674134.1:c.3586C>T ENSP00000501068.1:p.Arg1196Trp
ENST00000265348.7:c.3490C>T ENSP00000265348.3:p.Arg1164Trp
ENST00000467906.5:c.-1003-101G>A ENSP00000418759.1:p.=
ENST00000535468.1:c.3742C>T ENSP00000438788.1:p.Arg1248Trp
NM_001168370.1:c.3742C>T NP_001161842.1:p.Arg1248Trp
NM_014780.4:c.3490C>T NP_055595.2:p.Arg1164Trp
XM_005249503.1:c.3646C>T XP_005249560.1:p.Arg1216Trp
XM_006715285.1:c.3586C>T XP_006715348.1:p.Arg1196Trp
XM_011515019.1:c.3742C>T XP_011513321.1:p.Arg1248Trp
XM_011515020.1:c.3646C>T XP_011513322.1:p.Arg1216Trp
XM_011515021.1:c.1351C>T XP_011513323.1:p.Arg451Trp
XM_005249503.3:c.3646C>T XP_005249560.1:p.Arg1216Trp
XM_006715285.2:c.3586C>T XP_006715348.1:p.Arg1196Trp
XM_011515019.2:c.3742C>T XP_011513321.1:p.Arg1248Trp
XM_011515020.2:c.3646C>T XP_011513322.1:p.Arg1216Trp
XM_017011533.1:c.3769C>T XP_016867022.1:p.Arg1257Trp
XM_017011534.1:c.3769C>T XP_016867023.1:p.Arg1257Trp
XM_017011535.1:c.3673C>T XP_016867024.1:p.Arg1225Trp
XM_017011536.2:c.3613C>T XP_016867025.1:p.Arg1205Trp
XM_017011537.2:c.3586C>T XP_016867026.1:p.Arg1196Trp
XM_017011538.2:c.3517C>T XP_016867027.1:p.Arg1173Trp
XM_017011539.2:c.3490C>T XP_016867028.1:p.Arg1164Trp
NM_001168370.2:c.3586C>T NP_001161842.2:p.Arg1196Trp
NM_001374872.1:c.3586C>T NP_001361801.1:p.Arg1196Trp
NM_001374873.1:c.3490C>T NP_001361802.1:p.Arg1164Trp
NM_001374874.1:c.3487C>T NP_001361803.1:p.Arg1163Trp
NM_014780.5:c.3490C>T MANE Select NP_055595.2:p.Arg1164Trp