Canonical Allele Identifier: CA3198068

Gene: CCT5

Linked Data

• ClinVar Variation Id: 350249
• ClinVar RCV Id: RCV000602560 ; RCV001700079 ; RCV001712145
• dbSNP Id: rs1042392
• ExAC: 5:10256161 T / C
• gnomAD v2: 5-10256161-T-C
• gnomAD v3: 5-10256049-T-C
• gnomAD v4: 5-10256049-T-C
• MyVariant Identifiers: chr5:g.10256161T>C (hg19) ; chr5:g.10256049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10256049T>C , CM000667.2:g.10256049T>C	GRCh38
NC_000005.9:g.10256161T>C , CM000667.1:g.10256161T>C	GRCh37
NC_000005.8:g.10309161T>C	NCBI36
NG_012160.1:g.10880T>C , LRG_361:g.10880T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280326.9:c.426T>C MANE Select	ENSP00000280326.4:p.Arg142=
ENST00000280326.8:c.426T>C	ENSP00000280326.4:p.Arg142=
ENST00000423695.6:n.128-2062T>C
ENST00000503026.5:c.363T>C	ENSP00000423318.1:p.Arg121=
ENST00000503454.5:c.315T>C
ENST00000506600.1:c.147T>C	ENSP00000423052.1:p.Arg49=
ENST00000511700.1:c.341T>C	ENSP00000423087.1:n.341T>C
ENST00000512975.5:c.106-2062T>C	ENSP00000425751.1:n.106-2062T>C
ENST00000515390.5:c.261T>C	ENSP00000426923.1:p.Arg87=
ENST00000515676.5:c.312T>C	ENSP00000427297.1:p.Arg104=
ENST00000625723.1:c.106-2062T>C	ENSP00000487128.1:n.106-2062T>C
NM_001306153.1:c.363T>C	NP_001293082.1:p.Arg121=
NM_001306154.1:c.261T>C	NP_001293083.1:p.Arg87=
NM_001306155.1:c.147T>C	NP_001293084.1:p.Arg49=
NM_001306156.1:c.312T>C	NP_001293085.1:p.Arg104=
NM_012073.3:c.426T>C , LRG_361t1:c.426T>C	NP_036205.1:p.Arg142=
NM_012073.4:c.426T>C	NP_036205.1:p.Arg142=
NM_012073.5:c.426T>C MANE Select	NP_036205.1:p.Arg142=
NM_001306154.2:c.261T>C	NP_001293083.1:p.Arg87=
NM_001306155.2:c.147T>C	NP_001293084.1:p.Arg49=
NM_001306156.2:c.312T>C	NP_001293085.1:p.Arg104=