Canonical Allele Identifier: CA469795673

Gene: PRKG1

Linked Data

• ClinVar Variation Id: 2960732
• ClinVar RCV Id: RCV003817467
• dbSNP Id: rs1244061406
• MyVariant Identifiers: chr10:g.52834518C>T (hg19) ; chr10:g.51074758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.51074758C>T , CM000672.2:g.51074758C>T	GRCh38
NC_000010.10:g.52834518C>T , CM000672.1:g.52834518C>T	GRCh37
NC_000010.9:g.52504524C>T	NCBI36
NG_029982.1:g.88608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373976.9:c.168C>T	ENSP00000363087.4:p.Ala56=
ENST00000373980.11:c.168C>T MANE Select	ENSP00000363092.5:p.Ala56=
ENST00000401604.8:c.267-78406C>T	ENSP00000384200.4:n.267-78406C>T
ENST00000643582.1:c.168C>T	ENSP00000495279.1:p.Ala56=
ENST00000643704.1:c.168C>T	ENSP00000496551.1:p.Ala56=
ENST00000645324.1:c.168C>T	ENSP00000494124.1:p.Ala56=
ENST00000373980.8:c.168C>T	ENSP00000363092.4:p.Ala56=
ENST00000373985.5:c.267-78406C>T	ENSP00000363097.2:n.267-78406C>T
NM_001098512.2:c.267-78406C>T	NP_001091982.1:n.267-78406C>T
NM_006258.3:c.168C>T	NP_006249.1:p.Ala56=
XM_011539952.1:c.168C>T	XP_011538254.1:p.Ala56=
NM_001098512.3:c.267-78406C>T	NP_001091982.1:n.267-78406C>T
NM_006258.4:c.168C>T MANE Select	NP_006249.1:p.Ala56=
XM_011539952.2:c.168C>T	XP_011538254.1:p.Ala56=
NM_001374782.1:c.168C>T	NP_001361711.1:p.Ala56=