Canonical Allele Identifier: CA407412474
Gene: PRKCG HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.53883189G>A
GRCh37 chr19:g.54386443G>A
Revel Score:
ENST00000536044 0.977
ENST00000540413 0.977
ENST00000263431 (MANE Select) 0.977
ENST00000419486 0.977
ClinVar Allele:
430264
ClinVar RCV:
RCV000501395
ClinVar Variation:
436421
dbSNP:
1555806333
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53883189G>A , CM000681.2:g.53883189G>A GRCh38
NC_000019.9:g.54386443G>A , CM000681.1:g.54386443G>A GRCh37
NC_000019.8:g.59078255G>A NCBI36
NG_009114.1:g.5977G>A , LRG_669:g.5977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682028.1:c.197G>A ENSP00000507230.1:p.Cys66Tyr
ENST00000682268.1:n.495G>A
ENST00000682902.1:n.499G>A
ENST00000683513.1:c.197G>A ENSP00000506809.1:p.Cys66Tyr
ENST00000263431.4:c.197G>A MANE Select ENSP00000263431.3:p.Cys66Tyr
ENST00000263431.3:c.197G>A ENSP00000263431.3:p.Cys66Tyr
ENST00000419486.1:c.-188G>A ENSP00000387919.2:n.-188G>A
ENST00000474397.5:c.-188G>A ENSP00000471271.1:n.-188G>A
ENST00000479081.5:c.-188G>A ENSP00000471544.1:n.-188G>A
NM_001316329.1:c.197G>A NP_001303258.1:p.Cys66Tyr
NM_002739.3:c.197G>A , LRG_669t1:c.197G>A NP_002730.1:p.Cys66Tyr
NM_002739.4:c.197G>A NP_002730.1:p.Cys66Tyr
NM_002739.5:c.197G>A MANE Select NP_002730.1:p.Cys66Tyr
NM_001316329.2:c.197G>A NP_001303258.1:p.Cys66Tyr
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