Canonical Allele Identifier: CA4129170
Community Standard Title: NM_152558.5(IQCE):c.1365A>G (p.Thr455=)
Gene: IQCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2594901A>G , CM000669.2:g.2594901A>G GRCh38
NC_000007.13:g.2634535A>G , CM000669.1:g.2634535A>G GRCh37
NC_000007.12:g.2601061A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152558.5:c.1365A>G MANE Select NP_689771.3:p.Thr455=
ENST00000402050.7:c.1365A>G MANE Select ENSP00000385597.2:p.Thr455=
NM_001287499.1:c.1365A>G NP_001274428.1:p.Thr455=
NM_001287499.2:c.1365A>G NP_001274428.1:p.Thr455=
NM_001287500.1:c.1317A>G NP_001274429.1:p.Thr439=
NM_001287500.2:c.1317A>G NP_001274429.1:p.Thr439=
NM_001287501.1:c.1170A>G NP_001274430.1:p.Thr390=
NM_001287501.2:c.1170A>G NP_001274430.1:p.Thr390=
NM_001287502.1:c.1170A>G NP_001274431.1:p.Thr390=
NM_001287502.2:c.1170A>G NP_001274431.1:p.Thr390=
NM_152558.4:c.1365A>G NP_689771.3:p.Thr455=
ENST00000325979.11:c.1170A>G ENSP00000313772.7:p.Thr390=
ENST00000325997.13:c.*1142A>G ENSP00000314011.10:n.*1142A>G
ENST00000402050.6:c.1365A>G ENSP00000385597.2:p.Thr455=
ENST00000404984.5:c.1212A>G ENSP00000385945.1:p.Thr404=
ENST00000438376.6:c.1317A>G ENSP00000396178.2:p.Thr439=
ENST00000470731.5:n.1499A>G
ENST00000476665.5:c.1365A>G ENSP00000480715.1:p.Thr455=
ENST00000490913.1:n.323A>G
ENST00000611775.4:c.1317A>G ENSP00000480668.1:p.Thr439=
ENST00000623361.3:c.1170A>G ENSP00000485601.1:p.Thr390=
XM_006715676.2:c.1170A>G XP_006715739.1:p.Thr390=
XM_006715677.2:c.930A>G XP_006715740.1:p.Thr310=
XM_011515242.1:c.1230A>G XP_011513544.1:p.Thr410=
XM_011515243.1:c.1170A>G XP_011513545.1:p.Thr390=
XM_011515244.1:c.648A>G XP_011513546.1:p.Thr216=
XM_011515244.3:c.648A>G XP_011513546.1:p.Thr216=
XM_017011902.1:c.1386A>G XP_016867391.1:p.Thr462=
XM_017011903.1:c.1170A>G XP_016867392.1:p.Thr390=
XM_024446698.1:c.1290A>G XP_024302466.1:p.Thr430=
XM_024446699.1:c.930A>G XP_024302467.1:p.Thr310=
XM_024446700.1:c.930A>G XP_024302468.1:p.Thr310=