Canonical Allele Identifier: CA9640689
Gene: PRKCG HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.53904725G>A
GRCh37 chr19:g.54407979G>A
Revel Score:
ENST00000540413 0.146
ENST00000263431 (MANE Select) 0.146
gnomAD v2:
19:54407979 G / A
gnomAD v3:
19:53904725 G / A
gnomAD v4:
chr19-53904725-G-A
Joint Max Group AF 0.00015877 (NFE)
Genomes Max Group AF 0.00011234 (NFE)
Exomes Max Group AF 0.00015765 (NFE)
ClinVar RCV:
RCV000600767
RCV001288723
ClinVar Variation:
518306
dbSNP:
143513754
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53904725G>A , CM000681.2:g.53904725G>A GRCh38
NC_000019.9:g.54407979G>A , CM000681.1:g.54407979G>A GRCh37
NC_000019.8:g.59099791G>A NCBI36
NG_009114.1:g.27513G>A , LRG_669:g.27513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682028.1:c.1747G>A ENSP00000507230.1:p.Val583Met
ENST00000682676.1:n.1148G>A
ENST00000682902.1:n.2049G>A
ENST00000683513.1:c.1656+1572G>A ENSP00000506809.1:n.1656+1572G>A
ENST00000263431.4:c.1747G>A MANE Select ENSP00000263431.3:p.Val583Met
ENST00000263431.3:c.1747G>A ENSP00000263431.3:p.Val583Met
NM_001316329.1:c.1747G>A NP_001303258.1:p.Val583Met
NM_002739.3:c.1747G>A , LRG_669t1:c.1747G>A NP_002730.1:p.Val583Met
NM_002739.4:c.1747G>A NP_002730.1:p.Val583Met
XM_011527108.1:c.838G>A XP_011525410.1:p.Val280Met
NM_002739.5:c.1747G>A MANE Select NP_002730.1:p.Val583Met
NM_001316329.2:c.1747G>A NP_001303258.1:p.Val583Met
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