Canonical Allele Identifier: CA3813288
Community Standard Title: NM_014780.5(CUL7):c.4131T>C (p.Asn1377=)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43040319A>G , CM000668.2:g.43040319A>G GRCh38
NC_000006.11:g.43008057A>G , CM000668.1:g.43008057A>G GRCh37
NC_000006.10:g.43116035A>G NCBI36
NG_016205.1:g.18627T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4131T>C MANE Select NP_055595.2:p.Asn1377=
ENST00000265348.9:c.4131T>C MANE Select ENSP00000265348.4:p.Asn1377=
NM_001168370.1:c.4383T>C NP_001161842.1:p.Asn1461=
NM_001168370.2:c.4227T>C NP_001161842.2:p.Asn1409=
NM_001374872.1:c.4227T>C NP_001361801.1:p.Asn1409=
NM_001374873.1:c.4131T>C NP_001361802.1:p.Asn1377=
NM_001374874.1:c.4128T>C NP_001361803.1:p.Asn1376=
NM_014780.4:c.4131T>C NP_055595.2:p.Asn1377=
ENST00000265348.7:c.4131T>C ENSP00000265348.3:p.Asn1377=
ENST00000478630.2:n.2202T>C
ENST00000535468.1:c.4383T>C ENSP00000438788.1:p.Asn1461=
ENST00000673725.1:c.2002T>C
ENST00000673753.1:n.4970T>C
ENST00000674100.1:c.4227T>C ENSP00000501292.1:p.Asn1409=
ENST00000674112.1:c.2623T>C
ENST00000674112.2:c.4131T>C ENSP00000501166.2:p.Asn1377=
ENST00000674134.1:c.4227T>C ENSP00000501068.1:p.Asn1409=
ENST00000683320.1:n.492T>C
ENST00000685042.1:c.*787T>C ENSP00000509871.1:n.*787T>C
ENST00000686442.1:n.4860T>C
ENST00000687225.1:c.*2428T>C ENSP00000509364.1:n.*2428T>C
ENST00000688302.1:n.4414T>C
ENST00000689256.1:n.4708T>C
ENST00000690231.1:c.4131T>C ENSP00000508461.1:p.Asn1377=
ENST00000692002.1:c.144T>C ENSP00000508567.1:p.Asn48=
XM_005249503.1:c.4287T>C XP_005249560.1:p.Asn1429=
XM_005249503.3:c.4287T>C XP_005249560.1:p.Asn1429=
XM_006715285.1:c.4227T>C XP_006715348.1:p.Asn1409=
XM_006715285.2:c.4227T>C XP_006715348.1:p.Asn1409=
XM_011515019.1:c.4383T>C XP_011513321.1:p.Asn1461=
XM_011515019.2:c.4383T>C XP_011513321.1:p.Asn1461=
XM_011515020.1:c.4287T>C XP_011513322.1:p.Asn1429=
XM_011515020.2:c.4287T>C XP_011513322.1:p.Asn1429=
XM_011515021.1:c.1992T>C XP_011513323.1:p.Asn664=
XM_017011533.1:c.4410T>C XP_016867022.1:p.Asn1470=
XM_017011534.1:c.4410T>C XP_016867023.1:p.Asn1470=
XM_017011535.1:c.4314T>C XP_016867024.1:p.Asn1438=
XM_017011536.2:c.4254T>C XP_016867025.1:p.Asn1418=
XM_017011537.2:c.4227T>C XP_016867026.1:p.Asn1409=
XM_017011538.2:c.4158T>C XP_016867027.1:p.Asn1386=
XM_017011539.2:c.4131T>C XP_016867028.1:p.Asn1377=