Canonical Allele Identifier: CA344603

Gene: PRKCG

Linked Data

• ClinVar Variation Id: 42145
• ClinVar RCV Id: RCV000034972 ; RCV000516815 ; RCV000766758
• dbSNP Id: rs78437096
• ExAC: 19:54410130 T / G
• gnomAD v2: 19-54410130-T-G
• gnomAD v3: 19-53906876-T-G
• gnomAD v4: 19-53906876-T-G
• MyVariant Identifiers: chr19:g.54410130T>G (hg19) ; chr19:g.53906876T>G (hg38)
• PubMed: PMID:16193476 ; PMID:18499672 ; PMID:20301573

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53906876T>G , CM000681.2:g.53906876T>G	GRCh38
NC_000019.9:g.54410130T>G , CM000681.1:g.54410130T>G	GRCh37
NC_000019.8:g.59101942T>G	NCBI36
NG_009114.1:g.29664T>G , LRG_669:g.29664T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682028.1:c.2075T>G	ENSP00000507230.1:p.Val692Gly
ENST00000682676.1:n.1476T>G
ENST00000683513.1:c.1967T>G	ENSP00000506809.1:p.Val656Gly
ENST00000263431.4:c.2075T>G MANE Select	ENSP00000263431.3:p.Val692Gly
ENST00000263431.3:c.2075T>G	ENSP00000263431.3:p.Val692Gly
NM_001316329.1:c.2075T>G	NP_001303258.1:p.Val692Gly
NM_002739.3:c.2075T>G , LRG_669t1:c.2075T>G	NP_002730.1:p.Val692Gly
NM_002739.4:c.2075T>G	NP_002730.1:p.Val692Gly
XM_011527108.1:c.1166T>G	XP_011525410.1:p.Val389Gly
NM_002739.5:c.2075T>G MANE Select	NP_002730.1:p.Val692Gly
NM_001316329.2:c.2075T>G	NP_001303258.1:p.Val692Gly