Canonical Allele Identifier: CA359181227

Gene: CCT5

Linked Data

• dbSNP Id: rs1299999750
• gnomAD v2: 5-10256130-G-A
• MyVariant Identifiers: chr5:g.10256130G>A (hg19) ; chr5:g.10256018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10256018G>A , CM000667.2:g.10256018G>A	GRCh38
NC_000005.9:g.10256130G>A , CM000667.1:g.10256130G>A	GRCh37
NC_000005.8:g.10309130G>A	NCBI36
NG_012160.1:g.10849G>A , LRG_361:g.10849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280326.9:c.395G>A MANE Select	ENSP00000280326.4:p.Arg132Lys
ENST00000280326.8:c.395G>A	ENSP00000280326.4:p.Arg132Lys
ENST00000423695.6:n.128-2093G>A
ENST00000503026.5:c.332G>A	ENSP00000423318.1:p.Arg111Lys
ENST00000503454.5:c.284G>A
ENST00000506600.1:c.116G>A	ENSP00000423052.1:p.Arg39Lys
ENST00000511700.1:c.310G>A	ENSP00000423087.1:n.310G>A
ENST00000512975.5:c.106-2093G>A	ENSP00000425751.1:n.106-2093G>A
ENST00000515390.5:c.230G>A	ENSP00000426923.1:p.Arg77Lys
ENST00000515676.5:c.281G>A	ENSP00000427297.1:p.Arg94Lys
ENST00000625723.1:c.106-2093G>A	ENSP00000487128.1:n.106-2093G>A
NM_001306153.1:c.332G>A	NP_001293082.1:p.Arg111Lys
NM_001306154.1:c.230G>A	NP_001293083.1:p.Arg77Lys
NM_001306155.1:c.116G>A	NP_001293084.1:p.Arg39Lys
NM_001306156.1:c.281G>A	NP_001293085.1:p.Arg94Lys
NM_012073.3:c.395G>A , LRG_361t1:c.395G>A	NP_036205.1:p.Arg132Lys
NM_012073.4:c.395G>A	NP_036205.1:p.Arg132Lys
NM_012073.5:c.395G>A MANE Select	NP_036205.1:p.Arg132Lys
NM_001306154.2:c.230G>A	NP_001293083.1:p.Arg77Lys
NM_001306155.2:c.116G>A	NP_001293084.1:p.Arg39Lys
NM_001306156.2:c.281G>A	NP_001293085.1:p.Arg94Lys