Canonical Allele Identifier: CA9640191

Gene: PRKCG

Linked Data

• dbSNP Id: rs752509680
• ExAC: 19:54385877 C / A
• gnomAD v2: 19-54385877-C-A
• gnomAD v4: 19-53882623-C-A
• MyVariant Identifiers: chr19:g.54385877C>A (hg19) ; chr19:g.53882623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53882623C>A , CM000681.2:g.53882623C>A	GRCh38
NC_000019.9:g.54385877C>A , CM000681.1:g.54385877C>A	GRCh37
NC_000019.8:g.59077689C>A	NCBI36
NG_009114.1:g.5411C>A , LRG_669:g.5411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682028.1:c.129C>A	ENSP00000507230.1:p.Phe43Leu
ENST00000682268.1:n.427C>A
ENST00000682902.1:n.431C>A
ENST00000683513.1:c.129C>A	ENSP00000506809.1:p.Phe43Leu
ENST00000263431.4:c.129C>A MANE Select	ENSP00000263431.3:p.Phe43Leu
ENST00000263431.3:c.129C>A	ENSP00000263431.3:p.Phe43Leu
ENST00000419486.1:c.-256C>A	ENSP00000387919.2:n.-256C>A
ENST00000474397.5:c.-256C>A	ENSP00000471271.1:n.-256C>A
ENST00000479081.5:c.-256C>A	ENSP00000471544.1:n.-256C>A
NM_001316329.1:c.129C>A	NP_001303258.1:p.Phe43Leu
NM_002739.3:c.129C>A , LRG_669t1:c.129C>A	NP_002730.1:p.Phe43Leu
NM_002739.4:c.129C>A	NP_002730.1:p.Phe43Leu
NM_002739.5:c.129C>A MANE Select	NP_002730.1:p.Phe43Leu
NM_001316329.2:c.129C>A	NP_001303258.1:p.Phe43Leu