Canonical Allele Identifier: CA3813849
Community Standard Title: NM_014780.5(CUL7):c.2439A>G (p.Gln813=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43046560T>C , CM000668.2:g.43046560T>C GRCh38
NC_000006.11:g.43014298T>C , CM000668.1:g.43014298T>C GRCh37
NC_000006.10:g.43122276T>C NCBI36
NG_016205.1:g.12386A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.2439A>G (CUL7) MANE Select NP_055595.2:p.Gln813=
ENST00000265348.9:c.2439A>G (CUL7) MANE Select ENSP00000265348.4:p.Gln813=
NM_001168370.1:c.2691A>G (CUL7) NP_001161842.1:p.Gln897=
NM_001168370.2:c.2535A>G (CUL7) NP_001161842.2:p.Gln845=
NM_001374872.1:c.2535A>G (CUL7) NP_001361801.1:p.Gln845=
NM_001374873.1:c.2439A>G (CUL7) NP_001361802.1:p.Gln813=
NM_001374874.1:c.2439A>G (CUL7) NP_001361803.1:p.Gln813=
NM_014780.4:c.2439A>G (CUL7) NP_055595.2:p.Gln813=
ENST00000265348.7:c.2439A>G (CUL7) ENSP00000265348.3:p.Gln813=
ENST00000467906.5:c.-553+3052T>C (KLC4) ENSP00000418759.1:n.-553+3052T>C
ENST00000478630.1:n.326A>G (CUL7)
ENST00000478630.2:n.326A>G (CUL7)
ENST00000535468.1:c.2691A>G (CUL7) ENSP00000438788.1:p.Gln897=
ENST00000673725.1:c.388A>G (CUL7)
ENST00000673753.1:n.3094A>G (CUL7)
ENST00000674100.1:c.2535A>G (CUL7) ENSP00000501292.1:p.Gln845=
ENST00000674112.1:c.931A>G (CUL7)
ENST00000674112.2:c.2439A>G (CUL7) ENSP00000501166.2:p.Gln813=
ENST00000674134.1:c.2535A>G (CUL7) ENSP00000501068.1:p.Gln845=
ENST00000685042.1:c.2439A>G (CUL7) ENSP00000509871.1:p.Gln813=
ENST00000686442.1:n.3000A>G (CUL7)
ENST00000687225.1:c.*552A>G (CUL7) ENSP00000509364.1:n.*552A>G
ENST00000688302.1:n.2722A>G (CUL7)
ENST00000689256.1:n.3016A>G (CUL7)
ENST00000690231.1:c.2439A>G (CUL7) ENSP00000508461.1:p.Gln813=
XM_005249503.1:c.2595A>G (CUL7) XP_005249560.1:p.Gln865=
XM_005249503.3:c.2595A>G (CUL7) XP_005249560.1:p.Gln865=
XM_006715285.1:c.2535A>G (CUL7) XP_006715348.1:p.Gln845=
XM_006715285.2:c.2535A>G (CUL7) XP_006715348.1:p.Gln845=
XM_011515019.1:c.2691A>G (CUL7) XP_011513321.1:p.Gln897=
XM_011515019.2:c.2691A>G (CUL7) XP_011513321.1:p.Gln897=
XM_011515020.1:c.2595A>G (CUL7) XP_011513322.1:p.Gln865=
XM_011515020.2:c.2595A>G (CUL7) XP_011513322.1:p.Gln865=
XM_011515021.1:c.300A>G (CUL7) XP_011513323.1:p.Gln100=
XM_017011533.1:c.2718A>G (CUL7) XP_016867022.1:p.Gln906=
XM_017011534.1:c.2718A>G (CUL7) XP_016867023.1:p.Gln906=
XM_017011535.1:c.2622A>G (CUL7) XP_016867024.1:p.Gln874=
XM_017011536.2:c.2562A>G (CUL7) XP_016867025.1:p.Gln854=
XM_017011537.2:c.2535A>G (CUL7) XP_016867026.1:p.Gln845=
XM_017011538.2:c.2466A>G (CUL7) XP_016867027.1:p.Gln822=
XM_017011539.2:c.2439A>G (CUL7) XP_016867028.1:p.Gln813=
XM_017011540.1:c.2677-153A>G (CUL7) XP_016867029.1:n.2677-153A>G