Canonical Allele Identifier: CA9640768
Gene: PRKCG HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.53906876T>C
GRCh37 chr19:g.54410130T>C
Revel Score:
ENST00000540413 0.050
ENST00000263431 (MANE Select) 0.050
ENST00000542049 0.050
gnomAD v2:
19:54410130 T / C
gnomAD v4:
chr19-53906876-T-C
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
dbSNP:
78437096
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682028.1:c.2075T>C ENSP00000507230.1:p.Val692Ala
ENST00000682676.1:n.1476T>C
ENST00000683513.1:c.1967T>C ENSP00000506809.1:p.Val656Ala
ENST00000263431.4:c.2075T>C MANE Select ENSP00000263431.3:p.Val692Ala
ENST00000263431.3:c.2075T>C ENSP00000263431.3:p.Val692Ala
NM_001316329.1:c.2075T>C NP_001303258.1:p.Val692Ala
NM_002739.3:c.2075T>C , LRG_669t1:c.2075T>C NP_002730.1:p.Val692Ala
NM_002739.4:c.2075T>C NP_002730.1:p.Val692Ala
XM_011527108.1:c.1166T>C XP_011525410.1:p.Val389Ala
NM_002739.5:c.2075T>C MANE Select NP_002730.1:p.Val692Ala
NM_001316329.2:c.2075T>C NP_001303258.1:p.Val692Ala
Search 100 bp 5'
Search 100 bp 3'