Canonical Allele Identifier: CA3198089

Gene: CCT5

Linked Data

• dbSNP Id: rs759349493
• ExAC: 5:10256210 A / C
• gnomAD v2: 5-10256210-A-C
• gnomAD v3: 5-10256098-A-C
• gnomAD v4: 5-10256098-A-C
• MyVariant Identifiers: chr5:g.10256210A>C (hg19) ; chr5:g.10256098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10256098A>C , CM000667.2:g.10256098A>C	GRCh38
NC_000005.9:g.10256210A>C , CM000667.1:g.10256210A>C	GRCh37
NC_000005.8:g.10309210A>C	NCBI36
NG_012160.1:g.10929A>C , LRG_361:g.10929A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280326.9:c.475A>C MANE Select	ENSP00000280326.4:p.Ile159Leu
ENST00000280326.8:c.475A>C	ENSP00000280326.4:p.Ile159Leu
ENST00000423695.6:n.128-2013A>C
ENST00000503026.5:c.412A>C	ENSP00000423318.1:p.Ile138Leu
ENST00000503454.5:c.364A>C
ENST00000506600.1:c.196A>C	ENSP00000423052.1:p.Ile66Leu
ENST00000511700.1:c.390A>C	ENSP00000423087.1:n.390A>C
ENST00000512975.5:c.106-2013A>C	ENSP00000425751.1:n.106-2013A>C
ENST00000515390.5:c.310A>C	ENSP00000426923.1:p.Ile104Leu
ENST00000515676.5:c.361A>C	ENSP00000427297.1:p.Ile121Leu
ENST00000625723.1:c.106-2013A>C	ENSP00000487128.1:n.106-2013A>C
NM_001306153.1:c.412A>C	NP_001293082.1:p.Ile138Leu
NM_001306154.1:c.310A>C	NP_001293083.1:p.Ile104Leu
NM_001306155.1:c.196A>C	NP_001293084.1:p.Ile66Leu
NM_001306156.1:c.361A>C	NP_001293085.1:p.Ile121Leu
NM_012073.3:c.475A>C , LRG_361t1:c.475A>C	NP_036205.1:p.Ile159Leu
NM_012073.4:c.475A>C	NP_036205.1:p.Ile159Leu
NM_012073.5:c.475A>C MANE Select	NP_036205.1:p.Ile159Leu
NM_001306154.2:c.310A>C	NP_001293083.1:p.Ile104Leu
NM_001306155.2:c.196A>C	NP_001293084.1:p.Ile66Leu
NM_001306156.2:c.361A>C	NP_001293085.1:p.Ile121Leu