Canonical Allele Identifier: CA2787978463
Gene: PRKG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.51482830G>C , CM000672.2:g.51482830G>C GRCh38
NC_000010.10:g.53242590G>C , CM000672.1:g.53242590G>C GRCh37
NC_000010.9:g.52912596G>C NCBI36
NG_029982.1:g.496680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373976.9:c.592+14994G>C ENSP00000363087.4:n.592+14994G>C
ENST00000373980.11:c.592+14994G>C MANE Select ENSP00000363092.5:n.592+14994G>C
ENST00000401604.8:c.547+14994G>C ENSP00000384200.4:n.547+14994G>C
ENST00000643582.1:c.592+14994G>C ENSP00000495279.1:n.592+14994G>C
ENST00000643704.1:c.592+14994G>C ENSP00000496551.1:n.592+14994G>C
ENST00000645324.1:c.592+14994G>C ENSP00000494124.1:n.592+14994G>C
ENST00000645790.1:n.114+14994G>C
ENST00000373976.8:c.166+14994G>C ENSP00000363087.3:n.166+14994G>C
ENST00000373980.8:c.592+14994G>C ENSP00000363092.4:n.592+14994G>C
ENST00000373985.5:c.547+14994G>C ENSP00000363097.2:n.547+14994G>C
NM_001098512.2:c.547+14994G>C NP_001091982.1:n.547+14994G>C
NM_006258.3:c.592+14994G>C NP_006249.1:n.592+14994G>C
XM_011539952.1:c.592+14994G>C XP_011538254.1:n.592+14994G>C
NM_001098512.3:c.547+14994G>C NP_001091982.1:n.547+14994G>C
NM_006258.4:c.592+14994G>C MANE Select NP_006249.1:n.592+14994G>C
XM_011539952.2:c.592+14994G>C XP_011538254.1:n.592+14994G>C
XM_017016412.1:c.307+14994G>C XP_016871901.1:n.307+14994G>C
XM_017016413.1:c.289+14994G>C XP_016871902.1:n.289+14994G>C
NM_001374782.1:c.592+14994G>C NP_001361711.1:n.592+14994G>C