Canonical Allele Identifier: CA5504016
Gene: PRKG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52293888T>C , CM000672.2:g.52293888T>C GRCh38
NC_000010.10:g.54053648T>C , CM000672.1:g.54053648T>C GRCh37
NC_000010.9:g.53723654T>C NCBI36
NG_029982.1:g.1307738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373975.3:n.1408T>C
ENST00000373980.11:c.2049T>C MANE Select ENSP00000363092.5:p.Asp683=
ENST00000401604.8:c.2004T>C ENSP00000384200.4:p.Asp668=
ENST00000672084.1:c.1137T>C ENSP00000499822.1:p.Asp379=
ENST00000373975.2:n.1498T>C
ENST00000373980.8:c.2049T>C ENSP00000363092.4:p.Asp683=
ENST00000373985.5:c.2004T>C ENSP00000363097.2:p.Asp668=
ENST00000401604.6:c.1368T>C ENSP00000384200.3:p.Asp456=
NM_001098512.2:c.2004T>C NP_001091982.1:p.Asp668=
NM_006258.3:c.2049T>C NP_006249.1:p.Asp683=
XM_005269972.3:c.1200T>C XP_005270029.1:p.Asp400=
NM_001098512.3:c.2004T>C NP_001091982.1:p.Asp668=
NM_006258.4:c.2049T>C MANE Select NP_006249.1:p.Asp683=
XM_017016412.1:c.1764T>C XP_016871901.1:p.Asp588=
XM_017016413.1:c.1746T>C XP_016871902.1:p.Asp582=
XM_024448078.1:c.840T>C XP_024303846.1:p.Asp280=
NM_001374781.1:c.840T>C NP_001361710.1:p.Asp280=