Canonical Allele Identifier: CA469795502

Gene: PRKG1

Linked Data

• ClinVar Variation Id: 702744
• ClinVar RCV Id: RCV002346008 ; RCV002539121
• dbSNP Id: rs1360836398
• gnomAD v3: 10-51074626-G-A
• gnomAD v4: 10-51074626-G-A
• MyVariant Identifiers: chr10:g.52834386G>A (hg19) ; chr10:g.51074626G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.51074626G>A , CM000672.2:g.51074626G>A	GRCh38
NC_000010.10:g.52834386G>A , CM000672.1:g.52834386G>A	GRCh37
NC_000010.9:g.52504392G>A	NCBI36
NG_029982.1:g.88476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373976.9:c.36G>A	ENSP00000363087.4:p.Gln12=
ENST00000373980.11:c.36G>A MANE Select	ENSP00000363092.5:p.Gln12=
ENST00000401604.8:c.267-78538G>A	ENSP00000384200.4:n.267-78538G>A
ENST00000643582.1:c.36G>A	ENSP00000495279.1:p.Gln12=
ENST00000643704.1:c.36G>A	ENSP00000496551.1:p.Gln12=
ENST00000645324.1:c.36G>A	ENSP00000494124.1:p.Gln12=
ENST00000373980.8:c.36G>A	ENSP00000363092.4:p.Gln12=
ENST00000373985.5:c.267-78538G>A	ENSP00000363097.2:n.267-78538G>A
NM_001098512.2:c.267-78538G>A	NP_001091982.1:n.267-78538G>A
NM_006258.3:c.36G>A	NP_006249.1:p.Gln12=
XM_011539952.1:c.36G>A	XP_011538254.1:p.Gln12=
NM_001098512.3:c.267-78538G>A	NP_001091982.1:n.267-78538G>A
NM_006258.4:c.36G>A MANE Select	NP_006249.1:p.Gln12=
XM_011539952.2:c.36G>A	XP_011538254.1:p.Gln12=
NM_001374782.1:c.36G>A	NP_001361711.1:p.Gln12=