Canonical Allele Identifier: CA3813052
Community Standard Title: NM_014780.5(CUL7):c.5041C>T (p.Arg1681Trp)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43037744G>A , CM000668.2:g.43037744G>A GRCh38
NC_000006.11:g.43005482G>A , CM000668.1:g.43005482G>A GRCh37
NC_000006.10:g.43113460G>A NCBI36
NG_016205.1:g.21202C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.5041C>T MANE Select NP_055595.2:p.Arg1681Trp
ENST00000265348.9:c.5041C>T MANE Select ENSP00000265348.4:p.Arg1681Trp
NM_001168370.1:c.5293C>T NP_001161842.1:p.Arg1765Trp
NM_001168370.2:c.5137C>T NP_001161842.2:p.Arg1713Trp
NM_001374872.1:c.5137C>T NP_001361801.1:p.Arg1713Trp
NM_001374873.1:c.5053C>T NP_001361802.1:p.Arg1685Trp
NM_001374874.1:c.5038C>T NP_001361803.1:p.Arg1680Trp
NM_014780.4:c.5041C>T NP_055595.2:p.Arg1681Trp
ENST00000265348.7:c.5041C>T ENSP00000265348.3:p.Arg1681Trp
ENST00000478630.2:n.3261C>T
ENST00000535468.1:c.5293C>T ENSP00000438788.1:p.Arg1765Trp
ENST00000674100.1:c.5137C>T ENSP00000501292.1:p.Arg1713Trp
ENST00000674112.1:c.3522C>T
ENST00000674112.2:c.*383C>T ENSP00000501166.2:n.*383C>T
ENST00000674134.1:c.5137C>T ENSP00000501068.1:p.Arg1713Trp
ENST00000683242.1:n.1588C>T
ENST00000685042.1:c.*1697C>T ENSP00000509871.1:n.*1697C>T
ENST00000686442.1:n.5919C>T
ENST00000689256.1:n.5618C>T
ENST00000690231.1:c.5041C>T ENSP00000508461.1:p.Arg1681Trp
ENST00000692002.1:c.1066C>T ENSP00000508567.1:p.Arg356Trp
XM_005249503.1:c.5197C>T XP_005249560.1:p.Arg1733Trp
XM_005249503.3:c.5197C>T XP_005249560.1:p.Arg1733Trp
XM_006715285.1:c.5149C>T XP_006715348.1:p.Arg1717Trp
XM_006715285.2:c.5149C>T XP_006715348.1:p.Arg1717Trp
XM_011515019.1:c.5305C>T XP_011513321.1:p.Arg1769Trp
XM_011515019.2:c.5305C>T XP_011513321.1:p.Arg1769Trp
XM_011515020.1:c.5209C>T XP_011513322.1:p.Arg1737Trp
XM_011515020.2:c.5209C>T XP_011513322.1:p.Arg1737Trp
XM_011515021.1:c.2914C>T XP_011513323.1:p.Arg972Trp
XM_017011533.1:c.5332C>T XP_016867022.1:p.Arg1778Trp
XM_017011534.1:c.5320C>T XP_016867023.1:p.Arg1774Trp
XM_017011535.1:c.5236C>T XP_016867024.1:p.Arg1746Trp
XM_017011536.2:c.5176C>T XP_016867025.1:p.Arg1726Trp
XM_017011537.2:c.5137C>T XP_016867026.1:p.Arg1713Trp
XM_017011538.2:c.5080C>T XP_016867027.1:p.Arg1694Trp
XM_017011539.2:c.5053C>T XP_016867028.1:p.Arg1685Trp