Canonical Allele Identifier: CA359181243
Gene: CCT5 HGNC NCBI

Linked Data

dbSNP Id: rs1367000697
gnomAD v2: 5-10256134-A-G
gnomAD v3: 5-10256022-A-G
gnomAD v4: 5-10256022-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10256022A>G , CM000667.2:g.10256022A>G GRCh38
NC_000005.9:g.10256134A>G , CM000667.1:g.10256134A>G GRCh37
NC_000005.8:g.10309134A>G NCBI36
NG_012160.1:g.10853A>G , LRG_361:g.10853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000280326.9:c.399A>G MANE Select ENSP00000280326.4:p.Ile133Met
ENST00000280326.8:c.399A>G ENSP00000280326.4:p.Ile133Met
ENST00000423695.6:n.128-2089A>G
ENST00000503026.5:c.336A>G ENSP00000423318.1:p.Ile112Met
ENST00000503454.5:c.288A>G
ENST00000506600.1:c.120A>G ENSP00000423052.1:p.Ile40Met
ENST00000511700.1:c.314A>G ENSP00000423087.1:n.314A>G
ENST00000512975.5:c.106-2089A>G ENSP00000425751.1:n.106-2089A>G
ENST00000515390.5:c.234A>G ENSP00000426923.1:p.Ile78Met
ENST00000515676.5:c.285A>G ENSP00000427297.1:p.Ile95Met
ENST00000625723.1:c.106-2089A>G ENSP00000487128.1:n.106-2089A>G
NM_001306153.1:c.336A>G NP_001293082.1:p.Ile112Met
NM_001306154.1:c.234A>G NP_001293083.1:p.Ile78Met
NM_001306155.1:c.120A>G NP_001293084.1:p.Ile40Met
NM_001306156.1:c.285A>G NP_001293085.1:p.Ile95Met
NM_012073.3:c.399A>G , LRG_361t1:c.399A>G NP_036205.1:p.Ile133Met
NM_012073.4:c.399A>G NP_036205.1:p.Ile133Met
NM_012073.5:c.399A>G MANE Select NP_036205.1:p.Ile133Met
NM_001306154.2:c.234A>G NP_001293083.1:p.Ile78Met
NM_001306155.2:c.120A>G NP_001293084.1:p.Ile40Met
NM_001306156.2:c.285A>G NP_001293085.1:p.Ile95Met