Canonical Allele Identifier: CA364203833

Linked Data

dbSNP Id: rs1763600149
gnomAD v4: 6-43043180-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43043180T>A , CM000668.2:g.43043180T>A GRCh38
NC_000006.11:g.43010918T>A , CM000668.1:g.43010918T>A GRCh37
NC_000006.10:g.43118896T>A NCBI36
NG_016205.1:g.15766A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478630.2:n.1427A>T (CUL7)
ENST00000674112.2:c.3356A>T (CUL7) ENSP00000501166.2:p.Lys1119Ile
ENST00000685042.1:c.*12A>T (CUL7) ENSP00000509871.1:n.*12A>T
ENST00000686442.1:n.3917A>T (CUL7)
ENST00000687225.1:c.*1653A>T (CUL7) ENSP00000509364.1:n.*1653A>T
ENST00000688302.1:n.3639A>T (CUL7)
ENST00000689256.1:n.3933A>T (CUL7)
ENST00000690231.1:c.3356A>T (CUL7) ENSP00000508461.1:p.Lys1119Ile
ENST00000265348.9:c.3356A>T (CUL7) MANE Select ENSP00000265348.4:p.Lys1119Ile
ENST00000673725.1:c.1305A>T (CUL7)
ENST00000673753.1:n.4195A>T (CUL7)
ENST00000674100.1:c.3452A>T (CUL7) ENSP00000501292.1:p.Lys1151Ile
ENST00000674112.1:c.1848A>T (CUL7)
ENST00000674134.1:c.3452A>T (CUL7) ENSP00000501068.1:p.Lys1151Ile
ENST00000265348.7:c.3356A>T (CUL7) ENSP00000265348.3:p.Lys1119Ile
ENST00000467906.5:c.-881T>A (KLC4) ENSP00000418759.1:n.-881T>A
ENST00000535468.1:c.3608A>T (CUL7) ENSP00000438788.1:p.Lys1203Ile
NM_001168370.1:c.3608A>T (CUL7) NP_001161842.1:p.Lys1203Ile
NM_014780.4:c.3356A>T (CUL7) NP_055595.2:p.Lys1119Ile
XM_005249503.1:c.3512A>T (CUL7) XP_005249560.1:p.Lys1171Ile
XM_006715285.1:c.3452A>T (CUL7) XP_006715348.1:p.Lys1151Ile
XM_011515019.1:c.3608A>T (CUL7) XP_011513321.1:p.Lys1203Ile
XM_011515020.1:c.3512A>T (CUL7) XP_011513322.1:p.Lys1171Ile
XM_011515021.1:c.1217A>T (CUL7) XP_011513323.1:p.Lys406Ile
XM_005249503.3:c.3512A>T (CUL7) XP_005249560.1:p.Lys1171Ile
XM_006715285.2:c.3452A>T (CUL7) XP_006715348.1:p.Lys1151Ile
XM_011515019.2:c.3608A>T (CUL7) XP_011513321.1:p.Lys1203Ile
XM_011515020.2:c.3512A>T (CUL7) XP_011513322.1:p.Lys1171Ile
XM_017011533.1:c.3635A>T (CUL7) XP_016867022.1:p.Lys1212Ile
XM_017011534.1:c.3635A>T (CUL7) XP_016867023.1:p.Lys1212Ile
XM_017011535.1:c.3539A>T (CUL7) XP_016867024.1:p.Lys1180Ile
XM_017011536.2:c.3479A>T (CUL7) XP_016867025.1:p.Lys1160Ile
XM_017011537.2:c.3452A>T (CUL7) XP_016867026.1:p.Lys1151Ile
XM_017011538.2:c.3383A>T (CUL7) XP_016867027.1:p.Lys1128Ile
XM_017011539.2:c.3356A>T (CUL7) XP_016867028.1:p.Lys1119Ile
NM_001168370.2:c.3452A>T (CUL7) NP_001161842.2:p.Lys1151Ile
NM_001374872.1:c.3452A>T (CUL7) NP_001361801.1:p.Lys1151Ile
NM_001374873.1:c.3356A>T (CUL7) NP_001361802.1:p.Lys1119Ile
NM_001374874.1:c.3356-3A>T (CUL7) NP_001361803.1:n.3356-3A>T
NM_014780.5:c.3356A>T (CUL7) MANE Select NP_055595.2:p.Lys1119Ile