Canonical Allele Identifier: CA5503125

Gene: PRKG1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.51153278C>T , CM000672.2:g.51153278C>T	GRCh38
NC_000010.10:g.52913038C>T , CM000672.1:g.52913038C>T	GRCh37
NC_000010.9:g.52583044C>T	NCBI36
NG_029982.1:g.167128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373976.9:c.426C>T	ENSP00000363087.4:p.Asp142=
ENST00000373980.11:c.426C>T MANE Select	ENSP00000363092.5:p.Asp142=
ENST00000401604.8:c.381C>T	ENSP00000384200.4:p.Asp127=
ENST00000643582.1:c.426C>T	ENSP00000495279.1:p.Asp142=
ENST00000643704.1:c.426C>T	ENSP00000496551.1:p.Asp142=
ENST00000645324.1:c.426C>T	ENSP00000494124.1:p.Asp142=
ENST00000373980.8:c.426C>T	ENSP00000363092.4:p.Asp142=
ENST00000373985.5:c.381C>T	ENSP00000363097.2:p.Asp127=
NM_001098512.2:c.381C>T	NP_001091982.1:p.Asp127=
NM_006258.3:c.426C>T	NP_006249.1:p.Asp142=
XM_011539952.1:c.426C>T	XP_011538254.1:p.Asp142=
NM_001098512.3:c.381C>T	NP_001091982.1:p.Asp127=
NM_006258.4:c.426C>T MANE Select	NP_006249.1:p.Asp142=
XM_011539952.2:c.426C>T	XP_011538254.1:p.Asp142=
XM_017016412.1:c.141C>T	XP_016871901.1:p.Asp47=
XM_017016413.1:c.123C>T	XP_016871902.1:p.Asp41=
NM_001374782.1:c.426C>T	NP_001361711.1:p.Asp142=