Canonical Allele Identifier: CA364228302

Linked Data

gnomAD v4: 6-43051434-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43051434C>A , CM000668.2:g.43051434C>A GRCh38
NC_000006.11:g.43019172C>A , CM000668.1:g.43019172C>A GRCh37
NC_000006.10:g.43127150C>A NCBI36
NG_016205.1:g.7512G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674112.2:c.767G>T (CUL7) ENSP00000501166.2:p.Arg256Leu
ENST00000683160.1:n.1149G>T (CUL7)
ENST00000683493.1:n.808G>T (CUL7)
ENST00000685042.1:c.767G>T (CUL7) ENSP00000509871.1:p.Arg256Leu
ENST00000686442.1:n.1050G>T (CUL7)
ENST00000687225.1:c.863G>T (CUL7) ENSP00000509364.1:p.Arg288Leu
ENST00000688302.1:n.1050G>T (CUL7)
ENST00000688707.1:c.863G>T (CUL7) ENSP00000510608.1:p.Arg288Leu
ENST00000689256.1:n.1066G>T (CUL7)
ENST00000690231.1:c.767G>T (CUL7) ENSP00000508461.1:p.Arg256Leu
ENST00000265348.9:c.767G>T (CUL7) MANE Select ENSP00000265348.4:p.Arg256Leu
ENST00000673753.1:n.1101G>T (CUL7)
ENST00000673761.1:c.1518G>T ENSP00000501018.1:n.1518G>T
ENST00000674100.1:c.863G>T (CUL7) ENSP00000501292.1:p.Arg288Leu
ENST00000674134.1:c.863G>T (CUL7) ENSP00000501068.1:p.Arg288Leu
ENST00000265348.7:c.767G>T (CUL7) ENSP00000265348.3:p.Arg256Leu
ENST00000467906.5:c.-552-7592C>A (KLC4) ENSP00000418759.1:n.-552-7592C>A
ENST00000535468.1:c.1019G>T (CUL7) ENSP00000438788.1:p.Arg340Leu
NM_001168370.1:c.1019G>T (CUL7) NP_001161842.1:p.Arg340Leu
NM_014780.4:c.767G>T (CUL7) NP_055595.2:p.Arg256Leu
XM_005249503.1:c.923G>T (CUL7) XP_005249560.1:p.Arg308Leu
XM_006715285.1:c.863G>T (CUL7) XP_006715348.1:p.Arg288Leu
XM_011515019.1:c.1019G>T (CUL7) XP_011513321.1:p.Arg340Leu
XM_011515020.1:c.923G>T (CUL7) XP_011513322.1:p.Arg308Leu
XM_005249503.3:c.923G>T (CUL7) XP_005249560.1:p.Arg308Leu
XM_006715285.2:c.863G>T (CUL7) XP_006715348.1:p.Arg288Leu
XM_011515019.2:c.1019G>T (CUL7) XP_011513321.1:p.Arg340Leu
XM_011515020.2:c.923G>T (CUL7) XP_011513322.1:p.Arg308Leu
XM_017011533.1:c.1019G>T (CUL7) XP_016867022.1:p.Arg340Leu
XM_017011534.1:c.1019G>T (CUL7) XP_016867023.1:p.Arg340Leu
XM_017011535.1:c.923G>T (CUL7) XP_016867024.1:p.Arg308Leu
XM_017011536.2:c.863G>T (CUL7) XP_016867025.1:p.Arg288Leu
XM_017011537.2:c.863G>T (CUL7) XP_016867026.1:p.Arg288Leu
XM_017011538.2:c.767G>T (CUL7) XP_016867027.1:p.Arg256Leu
XM_017011539.2:c.767G>T (CUL7) XP_016867028.1:p.Arg256Leu
XM_017011540.1:c.1019G>T (CUL7) XP_016867029.1:p.Arg340Leu
NM_001168370.2:c.863G>T (CUL7) NP_001161842.2:p.Arg288Leu
NM_001374872.1:c.863G>T (CUL7) NP_001361801.1:p.Arg288Leu
NM_001374873.1:c.767G>T (CUL7) NP_001361802.1:p.Arg256Leu
NM_001374874.1:c.767G>T (CUL7) NP_001361803.1:p.Arg256Leu
NM_014780.5:c.767G>T (CUL7) MANE Select NP_055595.2:p.Arg256Leu