Canonical Allele Identifier: CA251899
Community Standard Title: NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43038891T>G , CM000668.2:g.43038891T>G GRCh38
NC_000006.11:g.43006629T>G , CM000668.1:g.43006629T>G GRCh37
NC_000006.10:g.43114607T>G NCBI36
NG_016205.1:g.20055A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4391A>C MANE Select NP_055595.2:p.His1464Pro
ENST00000265348.9:c.4391A>C MANE Select ENSP00000265348.4:p.His1464Pro
NM_001168370.1:c.4643A>C NP_001161842.1:p.His1548Pro
NM_001168370.2:c.4487A>C NP_001161842.2:p.His1496Pro
NM_001374872.1:c.4487A>C NP_001361801.1:p.His1496Pro
NM_001374873.1:c.4391A>C NP_001361802.1:p.His1464Pro
NM_001374874.1:c.4388A>C NP_001361803.1:p.His1463Pro
NM_014780.4:c.4391A>C NP_055595.2:p.His1464Pro
ENST00000265348.7:c.4391A>C ENSP00000265348.3:p.His1464Pro
ENST00000478630.2:n.2462A>C
ENST00000535468.1:c.4643A>C ENSP00000438788.1:p.His1548Pro
ENST00000673725.1:c.2262A>C
ENST00000673753.1:n.5230A>C
ENST00000674100.1:c.4487A>C ENSP00000501292.1:p.His1496Pro
ENST00000674112.1:c.2883A>C
ENST00000674112.2:c.4391A>C ENSP00000501166.2:p.His1464Pro
ENST00000674134.1:c.4487A>C ENSP00000501068.1:p.His1496Pro
ENST00000683242.1:n.789A>C
ENST00000685042.1:c.*1047A>C ENSP00000509871.1:n.*1047A>C
ENST00000686442.1:n.5120A>C
ENST00000687225.1:c.*2688A>C ENSP00000509364.1:n.*2688A>C
ENST00000688302.1:n.4674A>C
ENST00000689256.1:n.4968A>C
ENST00000690231.1:c.4391A>C ENSP00000508461.1:p.His1464Pro
ENST00000692002.1:c.404A>C ENSP00000508567.1:p.His135Pro
XM_005249503.1:c.4547A>C XP_005249560.1:p.His1516Pro
XM_005249503.3:c.4547A>C XP_005249560.1:p.His1516Pro
XM_006715285.1:c.4487A>C XP_006715348.1:p.His1496Pro
XM_006715285.2:c.4487A>C XP_006715348.1:p.His1496Pro
XM_011515019.1:c.4643A>C XP_011513321.1:p.His1548Pro
XM_011515019.2:c.4643A>C XP_011513321.1:p.His1548Pro
XM_011515020.1:c.4547A>C XP_011513322.1:p.His1516Pro
XM_011515020.2:c.4547A>C XP_011513322.1:p.His1516Pro
XM_011515021.1:c.2252A>C XP_011513323.1:p.His751Pro
XM_017011533.1:c.4670A>C XP_016867022.1:p.His1557Pro
XM_017011534.1:c.4670A>C XP_016867023.1:p.His1557Pro
XM_017011535.1:c.4574A>C XP_016867024.1:p.His1525Pro
XM_017011536.2:c.4514A>C XP_016867025.1:p.His1505Pro
XM_017011537.2:c.4487A>C XP_016867026.1:p.His1496Pro
XM_017011538.2:c.4418A>C XP_016867027.1:p.His1473Pro
XM_017011539.2:c.4391A>C XP_016867028.1:p.His1464Pro