Canonical Allele Identifier: CA3197950

Gene: CCT5

Linked Data

• ClinVar Variation Id: 350247
• ClinVar RCV Id: RCV000641269 ; RCV003437115
• dbSNP Id: rs141133834
• ExAC: 5:10250538 T / C
• gnomAD v2: 5-10250538-T-C
• gnomAD v3: 5-10250426-T-C
• gnomAD v4: 5-10250426-T-C
• MyVariant Identifiers: chr5:g.10250538T>C (hg19) ; chr5:g.10250426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10250426T>C , CM000667.2:g.10250426T>C	GRCh38
NC_000005.9:g.10250538T>C , CM000667.1:g.10250538T>C	GRCh37
NC_000005.8:g.10303538T>C	NCBI36
NG_012160.1:g.5257T>C , LRG_361:g.5257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280326.9:c.86T>C MANE Select	ENSP00000280326.4:p.Met29Thr
ENST00000280326.8:c.86T>C	ENSP00000280326.4:p.Met29Thr
ENST00000423695.6:n.108T>C
ENST00000503026.5:c.42+381T>C	ENSP00000423318.1:n.42+381T>C
ENST00000503454.5:c.67T>C
ENST00000508451.1:n.118T>C
ENST00000510326.5:n.108T>C
ENST00000511700.1:c.184T>C	ENSP00000423087.1:p.Trp62Arg
ENST00000512975.5:c.86T>C	ENSP00000425751.1:p.Met29Thr
ENST00000515390.5:c.86T>C	ENSP00000426923.1:p.Met29Thr
ENST00000625723.1:c.86T>C	ENSP00000487128.1:p.Met29Thr
NM_001306153.1:c.42+381T>C	NP_001293082.1:n.42+381T>C
NM_001306154.1:c.86T>C	NP_001293083.1:p.Met29Thr
NM_012073.3:c.86T>C , LRG_361t1:c.86T>C	NP_036205.1:p.Met29Thr
NM_012073.4:c.86T>C	NP_036205.1:p.Met29Thr
NM_012073.5:c.86T>C MANE Select	NP_036205.1:p.Met29Thr
NM_001306154.2:c.86T>C	NP_001293083.1:p.Met29Thr