Canonical Allele Identifier: CA364208488

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43045265C>G , CM000668.2:g.43045265C>G GRCh38
NC_000006.11:g.43013003C>G , CM000668.1:g.43013003C>G GRCh37
NC_000006.10:g.43120981C>G NCBI36
NG_016205.1:g.13681G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478630.2:n.1071G>C (CUL7)
ENST00000674112.2:c.3000G>C (CUL7) ENSP00000501166.2:p.Met1000Ile
ENST00000685042.1:c.3000G>C (CUL7) ENSP00000509871.1:p.Met1000Ile
ENST00000686442.1:n.3561G>C (CUL7)
ENST00000687225.1:c.*1297G>C (CUL7) ENSP00000509364.1:n.*1297G>C
ENST00000688302.1:n.3283G>C (CUL7)
ENST00000689256.1:n.3577G>C (CUL7)
ENST00000690231.1:c.3000G>C (CUL7) ENSP00000508461.1:p.Met1000Ile
ENST00000265348.9:c.3000G>C (CUL7) MANE Select ENSP00000265348.4:p.Met1000Ile
ENST00000673725.1:c.949G>C (CUL7)
ENST00000673753.1:n.3839G>C (CUL7)
ENST00000674100.1:c.3096G>C (CUL7) ENSP00000501292.1:p.Met1032Ile
ENST00000674112.1:c.1492G>C (CUL7)
ENST00000674134.1:c.3096G>C (CUL7) ENSP00000501068.1:p.Met1032Ile
ENST00000265348.7:c.3000G>C (CUL7) ENSP00000265348.3:p.Met1000Ile
ENST00000467906.5:c.-553+1757C>G (KLC4) ENSP00000418759.1:n.-553+1757C>G
ENST00000535468.1:c.3252G>C (CUL7) ENSP00000438788.1:p.Met1084Ile
NM_001168370.1:c.3252G>C (CUL7) NP_001161842.1:p.Met1084Ile
NM_014780.4:c.3000G>C (CUL7) NP_055595.2:p.Met1000Ile
XM_005249503.1:c.3156G>C (CUL7) XP_005249560.1:p.Met1052Ile
XM_006715285.1:c.3096G>C (CUL7) XP_006715348.1:p.Met1032Ile
XM_011515019.1:c.3252G>C (CUL7) XP_011513321.1:p.Met1084Ile
XM_011515020.1:c.3156G>C (CUL7) XP_011513322.1:p.Met1052Ile
XM_011515021.1:c.861G>C (CUL7) XP_011513323.1:p.Met287Ile
XM_005249503.3:c.3156G>C (CUL7) XP_005249560.1:p.Met1052Ile
XM_006715285.2:c.3096G>C (CUL7) XP_006715348.1:p.Met1032Ile
XM_011515019.2:c.3252G>C (CUL7) XP_011513321.1:p.Met1084Ile
XM_011515020.2:c.3156G>C (CUL7) XP_011513322.1:p.Met1052Ile
XM_017011533.1:c.3279G>C (CUL7) XP_016867022.1:p.Met1093Ile
XM_017011534.1:c.3279G>C (CUL7) XP_016867023.1:p.Met1093Ile
XM_017011535.1:c.3183G>C (CUL7) XP_016867024.1:p.Met1061Ile
XM_017011536.2:c.3123G>C (CUL7) XP_016867025.1:p.Met1041Ile
XM_017011537.2:c.3096G>C (CUL7) XP_016867026.1:p.Met1032Ile
XM_017011538.2:c.3027G>C (CUL7) XP_016867027.1:p.Met1009Ile
XM_017011539.2:c.3000G>C (CUL7) XP_016867028.1:p.Met1000Ile
NM_001168370.2:c.3096G>C (CUL7) NP_001161842.2:p.Met1032Ile
NM_001374872.1:c.3096G>C (CUL7) NP_001361801.1:p.Met1032Ile
NM_001374873.1:c.3000G>C (CUL7) NP_001361802.1:p.Met1000Ile
NM_001374874.1:c.3000G>C (CUL7) NP_001361803.1:p.Met1000Ile
NM_014780.5:c.3000G>C (CUL7) MANE Select NP_055595.2:p.Met1000Ile