Canonical Allele Identifier: CA3813226
Community Standard Title: NM_014780.5(CUL7):c.4417C>T (p.Leu1473=)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43038865G>A , CM000668.2:g.43038865G>A GRCh38
NC_000006.11:g.43006603G>A , CM000668.1:g.43006603G>A GRCh37
NC_000006.10:g.43114581G>A NCBI36
NG_016205.1:g.20081C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4417C>T MANE Select NP_055595.2:p.Leu1473=
ENST00000265348.9:c.4417C>T MANE Select ENSP00000265348.4:p.Leu1473=
NM_001168370.1:c.4669C>T NP_001161842.1:p.Leu1557=
NM_001168370.2:c.4513C>T NP_001161842.2:p.Leu1505=
NM_001374872.1:c.4513C>T NP_001361801.1:p.Leu1505=
NM_001374873.1:c.4417C>T NP_001361802.1:p.Leu1473=
NM_001374874.1:c.4414C>T NP_001361803.1:p.Leu1472=
NM_014780.4:c.4417C>T NP_055595.2:p.Leu1473=
ENST00000265348.7:c.4417C>T ENSP00000265348.3:p.Leu1473=
ENST00000478630.2:n.2488C>T
ENST00000535468.1:c.4669C>T ENSP00000438788.1:p.Leu1557=
ENST00000673725.1:c.2288C>T
ENST00000673753.1:n.5256C>T
ENST00000674100.1:c.4513C>T ENSP00000501292.1:p.Leu1505=
ENST00000674112.1:c.2909C>T
ENST00000674112.2:c.4417C>T ENSP00000501166.2:p.Leu1473=
ENST00000674134.1:c.4513C>T ENSP00000501068.1:p.Leu1505=
ENST00000683242.1:n.815C>T
ENST00000685042.1:c.*1073C>T ENSP00000509871.1:n.*1073C>T
ENST00000686442.1:n.5146C>T
ENST00000687225.1:c.*2714C>T ENSP00000509364.1:n.*2714C>T
ENST00000688302.1:n.4700C>T
ENST00000689256.1:n.4994C>T
ENST00000690231.1:c.4417C>T ENSP00000508461.1:p.Leu1473=
ENST00000692002.1:c.430C>T ENSP00000508567.1:p.Leu144=
XM_005249503.1:c.4573C>T XP_005249560.1:p.Leu1525=
XM_005249503.3:c.4573C>T XP_005249560.1:p.Leu1525=
XM_006715285.1:c.4513C>T XP_006715348.1:p.Leu1505=
XM_006715285.2:c.4513C>T XP_006715348.1:p.Leu1505=
XM_011515019.1:c.4669C>T XP_011513321.1:p.Leu1557=
XM_011515019.2:c.4669C>T XP_011513321.1:p.Leu1557=
XM_011515020.1:c.4573C>T XP_011513322.1:p.Leu1525=
XM_011515020.2:c.4573C>T XP_011513322.1:p.Leu1525=
XM_011515021.1:c.2278C>T XP_011513323.1:p.Leu760=
XM_017011533.1:c.4696C>T XP_016867022.1:p.Leu1566=
XM_017011534.1:c.4696C>T XP_016867023.1:p.Leu1566=
XM_017011535.1:c.4600C>T XP_016867024.1:p.Leu1534=
XM_017011536.2:c.4540C>T XP_016867025.1:p.Leu1514=
XM_017011537.2:c.4513C>T XP_016867026.1:p.Leu1505=
XM_017011538.2:c.4444C>T XP_016867027.1:p.Leu1482=
XM_017011539.2:c.4417C>T XP_016867028.1:p.Leu1473=