Canonical Allele Identifier: CA3813197
Community Standard Title: NM_014780.5(CUL7):c.4443G>A (p.Ala1481=)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43038690C>T , CM000668.2:g.43038690C>T GRCh38
NC_000006.11:g.43006428C>T , CM000668.1:g.43006428C>T GRCh37
NC_000006.10:g.43114406C>T NCBI36
NG_016205.1:g.20256G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4443G>A MANE Select NP_055595.2:p.Ala1481=
ENST00000265348.9:c.4443G>A MANE Select ENSP00000265348.4:p.Ala1481=
NM_001168370.1:c.4695G>A NP_001161842.1:p.Ala1565=
NM_001168370.2:c.4539G>A NP_001161842.2:p.Ala1513=
NM_001374872.1:c.4539G>A NP_001361801.1:p.Ala1513=
NM_001374873.1:c.4443G>A NP_001361802.1:p.Ala1481=
NM_001374874.1:c.4440G>A NP_001361803.1:p.Ala1480=
NM_014780.4:c.4443G>A NP_055595.2:p.Ala1481=
ENST00000265348.7:c.4443G>A ENSP00000265348.3:p.Ala1481=
ENST00000478630.2:n.2663G>A
ENST00000535468.1:c.4695G>A ENSP00000438788.1:p.Ala1565=
ENST00000673725.1:c.2314G>A
ENST00000673753.1:n.5282G>A
ENST00000674100.1:c.4539G>A ENSP00000501292.1:p.Ala1513=
ENST00000674112.1:c.2935G>A
ENST00000674112.2:c.4443G>A ENSP00000501166.2:p.Ala1481=
ENST00000674134.1:c.4539G>A ENSP00000501068.1:p.Ala1513=
ENST00000683242.1:n.990G>A
ENST00000685042.1:c.*1099G>A ENSP00000509871.1:n.*1099G>A
ENST00000686442.1:n.5321G>A
ENST00000687225.1:c.*2740G>A ENSP00000509364.1:n.*2740G>A
ENST00000688302.1:n.4875G>A
ENST00000689256.1:n.5020G>A
ENST00000690231.1:c.4443G>A ENSP00000508461.1:p.Ala1481=
ENST00000692002.1:c.456G>A ENSP00000508567.1:p.Ala152=
XM_005249503.1:c.4599G>A XP_005249560.1:p.Ala1533=
XM_005249503.3:c.4599G>A XP_005249560.1:p.Ala1533=
XM_006715285.1:c.4539G>A XP_006715348.1:p.Ala1513=
XM_006715285.2:c.4539G>A XP_006715348.1:p.Ala1513=
XM_011515019.1:c.4695G>A XP_011513321.1:p.Ala1565=
XM_011515019.2:c.4695G>A XP_011513321.1:p.Ala1565=
XM_011515020.1:c.4599G>A XP_011513322.1:p.Ala1533=
XM_011515020.2:c.4599G>A XP_011513322.1:p.Ala1533=
XM_011515021.1:c.2304G>A XP_011513323.1:p.Ala768=
XM_017011533.1:c.4722G>A XP_016867022.1:p.Ala1574=
XM_017011534.1:c.4722G>A XP_016867023.1:p.Ala1574=
XM_017011535.1:c.4626G>A XP_016867024.1:p.Ala1542=
XM_017011536.2:c.4566G>A XP_016867025.1:p.Ala1522=
XM_017011537.2:c.4539G>A XP_016867026.1:p.Ala1513=
XM_017011538.2:c.4470G>A XP_016867027.1:p.Ala1490=
XM_017011539.2:c.4443G>A XP_016867028.1:p.Ala1481=