Canonical Allele Identifier: CA3813145
Community Standard Title: NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43038389G>A , CM000668.2:g.43038389G>A GRCh38
NC_000006.11:g.43006127G>A , CM000668.1:g.43006127G>A GRCh37
NC_000006.10:g.43114105G>A NCBI36
NG_016205.1:g.20557C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4651C>T MANE Select NP_055595.2:p.Gln1551Ter
ENST00000265348.9:c.4651C>T MANE Select ENSP00000265348.4:p.Gln1551Ter
NM_001168370.1:c.4903C>T NP_001161842.1:p.Gln1635Ter
NM_001168370.2:c.4747C>T NP_001161842.2:p.Gln1583Ter
NM_001374872.1:c.4747C>T NP_001361801.1:p.Gln1583Ter
NM_001374873.1:c.4663C>T NP_001361802.1:p.Gln1555Ter
NM_001374874.1:c.4648C>T NP_001361803.1:p.Gln1550Ter
NM_014780.4:c.4651C>T NP_055595.2:p.Gln1551Ter
ENST00000265348.7:c.4651C>T ENSP00000265348.3:p.Gln1551Ter
ENST00000478630.2:n.2871C>T
ENST00000535468.1:c.4903C>T ENSP00000438788.1:p.Gln1635Ter
ENST00000673725.1:c.2511C>T
ENST00000673753.1:n.5479C>T
ENST00000674100.1:c.4747C>T ENSP00000501292.1:p.Gln1583Ter
ENST00000674112.1:c.3132C>T
ENST00000674112.2:c.4640C>T ENSP00000501166.2:p.Ala1547Val
ENST00000674134.1:c.4747C>T ENSP00000501068.1:p.Gln1583Ter
ENST00000683242.1:n.1198C>T
ENST00000685042.1:c.*1307C>T ENSP00000509871.1:n.*1307C>T
ENST00000686442.1:n.5529C>T
ENST00000687225.1:c.*2937C>T ENSP00000509364.1:n.*2937C>T
ENST00000688302.1:n.5072C>T
ENST00000689256.1:n.5228C>T
ENST00000690231.1:c.4651C>T ENSP00000508461.1:p.Gln1551Ter
ENST00000692002.1:c.676C>T ENSP00000508567.1:p.Gln226Ter
XM_005249503.1:c.4807C>T XP_005249560.1:p.Gln1603Ter
XM_005249503.3:c.4807C>T XP_005249560.1:p.Gln1603Ter
XM_006715285.1:c.4759C>T XP_006715348.1:p.Gln1587Ter
XM_006715285.2:c.4759C>T XP_006715348.1:p.Gln1587Ter
XM_011515019.1:c.4915C>T XP_011513321.1:p.Gln1639Ter
XM_011515019.2:c.4915C>T XP_011513321.1:p.Gln1639Ter
XM_011515020.1:c.4819C>T XP_011513322.1:p.Gln1607Ter
XM_011515020.2:c.4819C>T XP_011513322.1:p.Gln1607Ter
XM_011515021.1:c.2524C>T XP_011513323.1:p.Gln842Ter
XM_017011533.1:c.4942C>T XP_016867022.1:p.Gln1648Ter
XM_017011534.1:c.4930C>T XP_016867023.1:p.Gln1644Ter
XM_017011535.1:c.4846C>T XP_016867024.1:p.Gln1616Ter
XM_017011536.2:c.4786C>T XP_016867025.1:p.Gln1596Ter
XM_017011537.2:c.4747C>T XP_016867026.1:p.Gln1583Ter
XM_017011538.2:c.4690C>T XP_016867027.1:p.Gln1564Ter
XM_017011539.2:c.4663C>T XP_016867028.1:p.Gln1555Ter