Canonical Allele Identifier: CA5503871

Gene: PRKG1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52280910C>T , CM000672.2:g.52280910C>T	GRCh38
NC_000010.10:g.54040670C>T , CM000672.1:g.54040670C>T	GRCh37
NC_000010.9:g.53710676C>T	NCBI36
NG_029982.1:g.1294760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373975.3:n.884C>T
ENST00000373980.11:c.1525C>T MANE Select	ENSP00000363092.5:p.His509Tyr
ENST00000401604.8:c.1480C>T	ENSP00000384200.4:p.His494Tyr
ENST00000672084.1:c.676C>T	ENSP00000499822.1:p.His226Tyr
ENST00000373975.2:n.974C>T
ENST00000373980.8:c.1525C>T	ENSP00000363092.4:p.His509Tyr
ENST00000373985.5:c.1480C>T	ENSP00000363097.2:p.His494Tyr
ENST00000401604.6:c.844C>T	ENSP00000384200.3:p.His282Tyr
NM_001098512.2:c.1480C>T	NP_001091982.1:p.His494Tyr
NM_006258.3:c.1525C>T	NP_006249.1:p.His509Tyr
XM_005269972.3:c.676C>T	XP_005270029.1:p.His226Tyr
NM_001098512.3:c.1480C>T	NP_001091982.1:p.His494Tyr
NM_006258.4:c.1525C>T MANE Select	NP_006249.1:p.His509Tyr
XM_017016412.1:c.1240C>T	XP_016871901.1:p.His414Tyr
XM_017016413.1:c.1222C>T	XP_016871902.1:p.His408Tyr
XM_024448078.1:c.316C>T	XP_024303846.1:p.His106Tyr
NM_001374781.1:c.316C>T	NP_001361710.1:p.His106Tyr