Canonical Allele Identifier: CA450370174
Community Standard Title: NM_014780.5(CUL7):c.2583C>G (p.Pro861=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43046313G>C , CM000668.2:g.43046313G>C GRCh38
NC_000006.11:g.43014051G>C , CM000668.1:g.43014051G>C GRCh37
NC_000006.10:g.43122029G>C NCBI36
NG_016205.1:g.12633C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.2583C>G (CUL7) MANE Select NP_055595.2:p.Pro861=
ENST00000265348.9:c.2583C>G (CUL7) MANE Select ENSP00000265348.4:p.Pro861=
NM_001168370.1:c.2835C>G (CUL7) NP_001161842.1:p.Pro945=
NM_001168370.2:c.2679C>G (CUL7) NP_001161842.2:p.Pro893=
NM_001374872.1:c.2679C>G (CUL7) NP_001361801.1:p.Pro893=
NM_001374873.1:c.2583C>G (CUL7) NP_001361802.1:p.Pro861=
NM_001374874.1:c.2583C>G (CUL7) NP_001361803.1:p.Pro861=
NM_014780.4:c.2583C>G (CUL7) NP_055595.2:p.Pro861=
ENST00000265348.7:c.2583C>G (CUL7) ENSP00000265348.3:p.Pro861=
ENST00000467906.5:c.-553+2805G>C (KLC4) ENSP00000418759.1:n.-553+2805G>C
ENST00000478630.1:n.470C>G (CUL7)
ENST00000478630.2:n.470C>G (CUL7)
ENST00000535468.1:c.2835C>G (CUL7) ENSP00000438788.1:p.Pro945=
ENST00000673725.1:c.532C>G (CUL7)
ENST00000673753.1:n.3238C>G (CUL7)
ENST00000674100.1:c.2679C>G (CUL7) ENSP00000501292.1:p.Pro893=
ENST00000674112.1:c.1075C>G (CUL7)
ENST00000674112.2:c.2583C>G (CUL7) ENSP00000501166.2:p.Pro861=
ENST00000674134.1:c.2679C>G (CUL7) ENSP00000501068.1:p.Pro893=
ENST00000685042.1:c.2583C>G (CUL7) ENSP00000509871.1:p.Pro861=
ENST00000686442.1:n.3144C>G (CUL7)
ENST00000687225.1:c.*696C>G (CUL7) ENSP00000509364.1:n.*696C>G
ENST00000688302.1:n.2866C>G (CUL7)
ENST00000689256.1:n.3160C>G (CUL7)
ENST00000690231.1:c.2583C>G (CUL7) ENSP00000508461.1:p.Pro861=
XM_005249503.1:c.2739C>G (CUL7) XP_005249560.1:p.Pro913=
XM_005249503.3:c.2739C>G (CUL7) XP_005249560.1:p.Pro913=
XM_006715285.1:c.2679C>G (CUL7) XP_006715348.1:p.Pro893=
XM_006715285.2:c.2679C>G (CUL7) XP_006715348.1:p.Pro893=
XM_011515019.1:c.2835C>G (CUL7) XP_011513321.1:p.Pro945=
XM_011515019.2:c.2835C>G (CUL7) XP_011513321.1:p.Pro945=
XM_011515020.1:c.2739C>G (CUL7) XP_011513322.1:p.Pro913=
XM_011515020.2:c.2739C>G (CUL7) XP_011513322.1:p.Pro913=
XM_011515021.1:c.444C>G (CUL7) XP_011513323.1:p.Pro148=
XM_017011533.1:c.2862C>G (CUL7) XP_016867022.1:p.Pro954=
XM_017011534.1:c.2862C>G (CUL7) XP_016867023.1:p.Pro954=
XM_017011535.1:c.2766C>G (CUL7) XP_016867024.1:p.Pro922=
XM_017011536.2:c.2706C>G (CUL7) XP_016867025.1:p.Pro902=
XM_017011537.2:c.2679C>G (CUL7) XP_016867026.1:p.Pro893=
XM_017011538.2:c.2610C>G (CUL7) XP_016867027.1:p.Pro870=
XM_017011539.2:c.2583C>G (CUL7) XP_016867028.1:p.Pro861=
XM_017011540.1:c.*77C>G (CUL7) XP_016867029.1:n.*77C>G