Canonical Allele Identifier: CA3813233
Community Standard Title: NM_014780.5(CUL7):c.4346C>T (p.Thr1449Met)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43038936G>A , CM000668.2:g.43038936G>A GRCh38
NC_000006.11:g.43006674G>A , CM000668.1:g.43006674G>A GRCh37
NC_000006.10:g.43114652G>A NCBI36
NG_016205.1:g.20010C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4346C>T MANE Select NP_055595.2:p.Thr1449Met
ENST00000265348.9:c.4346C>T MANE Select ENSP00000265348.4:p.Thr1449Met
NM_001168370.1:c.4598C>T NP_001161842.1:p.Thr1533Met
NM_001168370.2:c.4442C>T NP_001161842.2:p.Thr1481Met
NM_001374872.1:c.4442C>T NP_001361801.1:p.Thr1481Met
NM_001374873.1:c.4346C>T NP_001361802.1:p.Thr1449Met
NM_001374874.1:c.4343C>T NP_001361803.1:p.Thr1448Met
NM_014780.4:c.4346C>T NP_055595.2:p.Thr1449Met
ENST00000265348.7:c.4346C>T ENSP00000265348.3:p.Thr1449Met
ENST00000478630.2:n.2417C>T
ENST00000535468.1:c.4598C>T ENSP00000438788.1:p.Thr1533Met
ENST00000673725.1:c.2217C>T
ENST00000673753.1:n.5185C>T
ENST00000674100.1:c.4442C>T ENSP00000501292.1:p.Thr1481Met
ENST00000674112.1:c.2838C>T
ENST00000674112.2:c.4346C>T ENSP00000501166.2:p.Thr1449Met
ENST00000674134.1:c.4442C>T ENSP00000501068.1:p.Thr1481Met
ENST00000683242.1:n.744C>T
ENST00000685042.1:c.*1002C>T ENSP00000509871.1:n.*1002C>T
ENST00000686442.1:n.5075C>T
ENST00000687225.1:c.*2643C>T ENSP00000509364.1:n.*2643C>T
ENST00000688302.1:n.4629C>T
ENST00000689256.1:n.4923C>T
ENST00000690231.1:c.4346C>T ENSP00000508461.1:p.Thr1449Met
ENST00000692002.1:c.359C>T ENSP00000508567.1:p.Thr120Met
XM_005249503.1:c.4502C>T XP_005249560.1:p.Thr1501Met
XM_005249503.3:c.4502C>T XP_005249560.1:p.Thr1501Met
XM_006715285.1:c.4442C>T XP_006715348.1:p.Thr1481Met
XM_006715285.2:c.4442C>T XP_006715348.1:p.Thr1481Met
XM_011515019.1:c.4598C>T XP_011513321.1:p.Thr1533Met
XM_011515019.2:c.4598C>T XP_011513321.1:p.Thr1533Met
XM_011515020.1:c.4502C>T XP_011513322.1:p.Thr1501Met
XM_011515020.2:c.4502C>T XP_011513322.1:p.Thr1501Met
XM_011515021.1:c.2207C>T XP_011513323.1:p.Thr736Met
XM_017011533.1:c.4625C>T XP_016867022.1:p.Thr1542Met
XM_017011534.1:c.4625C>T XP_016867023.1:p.Thr1542Met
XM_017011535.1:c.4529C>T XP_016867024.1:p.Thr1510Met
XM_017011536.2:c.4469C>T XP_016867025.1:p.Thr1490Met
XM_017011537.2:c.4442C>T XP_016867026.1:p.Thr1481Met
XM_017011538.2:c.4373C>T XP_016867027.1:p.Thr1458Met
XM_017011539.2:c.4346C>T XP_016867028.1:p.Thr1449Met