Canonical Allele Identifier: CA357948412

Gene: PPP3CA

Linked Data

• ClinVar Variation Id: 441275
• ClinVar RCV Id: RCV000509989 ; RCV000624048 ; RCV002269282 ; RCV003483646 ; RCV003883152
• dbSNP Id: rs1553923787
• COSMIC: COSM4838916
• MyVariant Identifiers: chr4:g.102004359C>T (hg19) ; chr4:g.101083202C>T (hg38)
• PubMed: PMID:3029762 ; PMID:8052858 ; PMID:10473536 ; PMID:10627609 ; PMID:11461966 ; PMID:15800199 ; PMID:20700442 ; PMID:22015374 ; PMID:24140049 ; PMID:25245802 ; PMID:25262651 ; PMID:27597899 ; PMID:28942967

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101083202C>T , CM000666.2:g.101083202C>T	GRCh38
NC_000004.11:g.102004359C>T , CM000666.1:g.102004359C>T	GRCh37
NC_000004.10:g.102223382C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394854.8:c.844G>A MANE Select	ENSP00000378323.3:p.Glu282Lys
ENST00000323055.10:c.844G>A	ENSP00000320580.6:p.Glu282Lys
ENST00000394853.8:c.844G>A	ENSP00000378322.4:p.Glu282Lys
ENST00000394854.7:c.844G>A	ENSP00000378323.3:p.Glu282Lys
ENST00000492351.6:c.829G>A	ENSP00000426565.1:n.829G>A
ENST00000507176.5:c.550G>A	ENSP00000422990.1:p.Glu184Lys
ENST00000512215.5:c.260-19845G>A	ENSP00000422781.1:n.260-19845G>A
NM_000944.4:c.844G>A	NP_000935.1:p.Glu282Lys
NM_001130691.1:c.844G>A	NP_001124163.1:p.Glu282Lys
NM_001130692.1:c.844G>A	NP_001124164.1:p.Glu282Lys
XM_017008365.1:c.808G>A	XP_016863854.1:p.Glu270Lys
XM_024454127.1:c.694G>A	XP_024309895.1:p.Glu232Lys
NM_000944.5:c.844G>A MANE Select	NP_000935.1:p.Glu282Lys
NM_001130691.2:c.844G>A	NP_001124163.1:p.Glu282Lys
NM_001130692.2:c.844G>A	NP_001124164.1:p.Glu282Lys