Canonical Allele Identifier: CA357948412
Gene: PPP3CA HGNC NCBI

Linked Data

ClinVar Variation Id: 441275
ClinVar RCV Id: 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
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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
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