Canonical Allele Identifier: CA113884454
Community Standard Title: NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)
Gene: CCT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10261719A>G , CM000667.2:g.10261719A>G GRCh38
NC_000005.9:g.10261831A>G , CM000667.1:g.10261831A>G GRCh37
NC_000005.8:g.10314831A>G NCBI36
NG_012160.1:g.16550A>G , LRG_361:g.16550A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012073.5:c.1153A>G MANE Select NP_036205.1:p.Ile385Val
ENST00000280326.9:c.1153A>G MANE Select ENSP00000280326.4:p.Ile385Val
NM_001306153.1:c.1090A>G NP_001293082.1:p.Ile364Val
NM_001306154.1:c.988A>G NP_001293083.1:p.Ile330Val
NM_001306154.2:c.988A>G NP_001293083.1:p.Ile330Val
NM_001306155.1:c.874A>G NP_001293084.1:p.Ile292Val
NM_001306155.2:c.874A>G NP_001293084.1:p.Ile292Val
NM_001306156.1:c.1039A>G NP_001293085.1:p.Ile347Val
NM_001306156.2:c.1039A>G NP_001293085.1:p.Ile347Val
NM_012073.3:c.1153A>G , LRG_361t1:c.1153A>G NP_036205.1:p.Ile385Val
NM_012073.4:c.1153A>G NP_036205.1:p.Ile385Val
ENST00000280326.8:c.1153A>G ENSP00000280326.4:p.Ile385Val
ENST00000423695.6:n.750A>G
ENST00000503026.5:c.1090A>G ENSP00000423318.1:p.Ile364Val
ENST00000506600.1:c.874A>G ENSP00000423052.1:p.Ile292Val
ENST00000515390.5:c.988A>G ENSP00000426923.1:p.Ile330Val
ENST00000515676.5:c.1039A>G ENSP00000427297.1:p.Ile347Val