Canonical Allele Identifier: CA5503645

Gene: PRKG1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52062541A>G , CM000672.2:g.52062541A>G	GRCh38
NC_000010.10:g.53822301A>G , CM000672.1:g.53822301A>G	GRCh37
NC_000010.9:g.53492307A>G	NCBI36
NG_029982.1:g.1076391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373975.3:n.143A>G
ENST00000373976.9:c.845A>G	ENSP00000363087.4:p.Asn282Ser
ENST00000373980.11:c.845A>G MANE Select	ENSP00000363092.5:p.Asn282Ser
ENST00000401604.8:c.800A>G	ENSP00000384200.4:p.Asn267Ser
ENST00000645324.1:c.845A>G	ENSP00000494124.1:p.Asn282Ser
ENST00000646354.1:n.262A>G
ENST00000373975.2:n.233A>G
ENST00000373976.8:c.419A>G	ENSP00000363087.3:p.Asn140Ser
ENST00000373980.8:c.845A>G	ENSP00000363092.4:p.Asn282Ser
ENST00000373985.5:c.800A>G	ENSP00000363097.2:p.Asn267Ser
ENST00000401604.6:c.164A>G	ENSP00000384200.3:p.Asn55Ser
NM_001098512.2:c.800A>G	NP_001091982.1:p.Asn267Ser
NM_006258.3:c.845A>G	NP_006249.1:p.Asn282Ser
XM_011539952.1:c.845A>G	XP_011538254.1:p.Asn282Ser
NM_001098512.3:c.800A>G	NP_001091982.1:p.Asn267Ser
NM_006258.4:c.845A>G MANE Select	NP_006249.1:p.Asn282Ser
XM_011539952.2:c.845A>G	XP_011538254.1:p.Asn282Ser
XM_017016412.1:c.560A>G	XP_016871901.1:p.Asn187Ser
XM_017016413.1:c.542A>G	XP_016871902.1:p.Asn181Ser
XM_024448078.1:c.-365A>G	XP_024303846.1:n.-365A>G
NM_001374781.1:c.-365A>G	NP_001361710.1:n.-365A>G
NM_001374782.1:c.845A>G	NP_001361711.1:p.Asn282Ser