Canonical Allele Identifier: CA359181212
Gene: CCT5 HGNC NCBI

Linked Data

dbSNP Id: rs1440050099
gnomAD v2: 5-10256126-A-G
gnomAD v4: 5-10256014-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10256014A>G , CM000667.2:g.10256014A>G GRCh38
NC_000005.9:g.10256126A>G , CM000667.1:g.10256126A>G GRCh37
NC_000005.8:g.10309126A>G NCBI36
NG_012160.1:g.10845A>G , LRG_361:g.10845A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000280326.9:c.391A>G MANE Select ENSP00000280326.4:p.Ile131Val
ENST00000280326.8:c.391A>G ENSP00000280326.4:p.Ile131Val
ENST00000423695.6:n.128-2097A>G
ENST00000503026.5:c.328A>G ENSP00000423318.1:p.Ile110Val
ENST00000503454.5:c.280A>G
ENST00000506600.1:c.112A>G ENSP00000423052.1:p.Ile38Val
ENST00000511700.1:c.306A>G ENSP00000423087.1:n.306A>G
ENST00000512975.5:c.106-2097A>G ENSP00000425751.1:n.106-2097A>G
ENST00000515390.5:c.226A>G ENSP00000426923.1:p.Ile76Val
ENST00000515676.5:c.277A>G ENSP00000427297.1:p.Ile93Val
ENST00000625723.1:c.106-2097A>G ENSP00000487128.1:n.106-2097A>G
NM_001306153.1:c.328A>G NP_001293082.1:p.Ile110Val
NM_001306154.1:c.226A>G NP_001293083.1:p.Ile76Val
NM_001306155.1:c.112A>G NP_001293084.1:p.Ile38Val
NM_001306156.1:c.277A>G NP_001293085.1:p.Ile93Val
NM_012073.3:c.391A>G , LRG_361t1:c.391A>G NP_036205.1:p.Ile131Val
NM_012073.4:c.391A>G NP_036205.1:p.Ile131Val
NM_012073.5:c.391A>G MANE Select NP_036205.1:p.Ile131Val
NM_001306154.2:c.226A>G NP_001293083.1:p.Ile76Val
NM_001306155.2:c.112A>G NP_001293084.1:p.Ile38Val
NM_001306156.2:c.277A>G NP_001293085.1:p.Ile93Val