Canonical Allele Identifier: CA2741094527
Gene: PRKG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52268643G>C , CM000672.2:g.52268643G>C GRCh38
NC_000010.10:g.54028403G>C , CM000672.1:g.54028403G>C GRCh37
NC_000010.9:g.53698409G>C NCBI36
NG_029982.1:g.1282493G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373975.3:n.533-2707G>C
ENST00000373980.11:c.1174-2707G>C MANE Select ENSP00000363092.5:n.1174-2707G>C
ENST00000401604.8:c.1129-2707G>C ENSP00000384200.4:n.1129-2707G>C
ENST00000672084.1:c.325-2707G>C ENSP00000499822.1:n.325-2707G>C
ENST00000373975.2:n.623-2707G>C
ENST00000373980.8:c.1174-2707G>C ENSP00000363092.4:n.1174-2707G>C
ENST00000373985.5:c.1129-2707G>C ENSP00000363097.2:n.1129-2707G>C
ENST00000401604.6:c.493-2707G>C ENSP00000384200.3:n.493-2707G>C
NM_001098512.2:c.1129-2707G>C NP_001091982.1:n.1129-2707G>C
NM_006258.3:c.1174-2707G>C NP_006249.1:n.1174-2707G>C
XM_005269972.3:c.325-2707G>C XP_005270029.1:n.325-2707G>C
NM_001098512.3:c.1129-2707G>C NP_001091982.1:n.1129-2707G>C
NM_006258.4:c.1174-2707G>C MANE Select NP_006249.1:n.1174-2707G>C
XM_017016412.1:c.889-2707G>C XP_016871901.1:n.889-2707G>C
XM_017016413.1:c.871-2707G>C XP_016871902.1:n.871-2707G>C
XM_024448078.1:c.-36-2707G>C XP_024303846.1:n.-36-2707G>C
NM_001374781.1:c.-36-2707G>C NP_001361710.1:n.-36-2707G>C