Canonical Allele Identifier: CA144806
Gene: PRKG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65477
dbSNP Id: rs397515330

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.51467819G>A , CM000672.2:g.51467819G>A GRCh38
NC_000010.10:g.53227579G>A , CM000672.1:g.53227579G>A GRCh37
NC_000010.9:g.52897585G>A NCBI36
NG_029982.1:g.481669G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373976.9:c.575G>A ENSP00000363087.4:p.Arg192Gln
ENST00000373980.11:c.575G>A MANE Select ENSP00000363092.5:p.Arg192Gln
ENST00000401604.8:c.530G>A ENSP00000384200.4:p.Arg177Gln
ENST00000643582.1:c.575G>A ENSP00000495279.1:p.Arg192Gln
ENST00000643704.1:c.575G>A ENSP00000496551.1:p.Arg192Gln
ENST00000645324.1:c.575G>A ENSP00000494124.1:p.Arg192Gln
ENST00000645790.1:n.97G>A
ENST00000373976.8:c.149G>A ENSP00000363087.3:p.Arg50Gln
ENST00000373980.8:c.575G>A ENSP00000363092.4:p.Arg192Gln
ENST00000373985.5:c.530G>A ENSP00000363097.2:p.Arg177Gln
NM_001098512.2:c.530G>A NP_001091982.1:p.Arg177Gln
NM_006258.3:c.575G>A NP_006249.1:p.Arg192Gln
XM_011539952.1:c.575G>A XP_011538254.1:p.Arg192Gln
NM_001098512.3:c.530G>A NP_001091982.1:p.Arg177Gln
NM_006258.4:c.575G>A MANE Select NP_006249.1:p.Arg192Gln
XM_011539952.2:c.575G>A XP_011538254.1:p.Arg192Gln
XM_017016412.1:c.290G>A XP_016871901.1:p.Arg97Gln
XM_017016413.1:c.272G>A XP_016871902.1:p.Arg91Gln
NM_001374782.1:c.575G>A NP_001361711.1:p.Arg192Gln