Canonical Allele Identifier: CA593557252

Gene: PRKG1

Linked Data

• dbSNP Id: rs1176612149
• gnomAD v2: 10-54028378-A-C
• gnomAD v3: 10-52268618-A-C
• gnomAD v4: 10-52268618-A-C
• MyVariant Identifiers: chr10:g.54028378A>C (hg19) ; chr10:g.52268618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52268618A>C , CM000672.2:g.52268618A>C	GRCh38
NC_000010.10:g.54028378A>C , CM000672.1:g.54028378A>C	GRCh37
NC_000010.9:g.53698384A>C	NCBI36
NG_029982.1:g.1282468A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373975.3:n.533-2732A>C
ENST00000373980.11:c.1174-2732A>C MANE Select	ENSP00000363092.5:n.1174-2732A>C
ENST00000401604.8:c.1129-2732A>C	ENSP00000384200.4:n.1129-2732A>C
ENST00000672084.1:c.325-2732A>C	ENSP00000499822.1:n.325-2732A>C
ENST00000373975.2:n.623-2732A>C
ENST00000373980.8:c.1174-2732A>C	ENSP00000363092.4:n.1174-2732A>C
ENST00000373985.5:c.1129-2732A>C	ENSP00000363097.2:n.1129-2732A>C
ENST00000401604.6:c.493-2732A>C	ENSP00000384200.3:n.493-2732A>C
NM_001098512.2:c.1129-2732A>C	NP_001091982.1:n.1129-2732A>C
NM_006258.3:c.1174-2732A>C	NP_006249.1:n.1174-2732A>C
XM_005269972.3:c.325-2732A>C	XP_005270029.1:n.325-2732A>C
NM_001098512.3:c.1129-2732A>C	NP_001091982.1:n.1129-2732A>C
NM_006258.4:c.1174-2732A>C MANE Select	NP_006249.1:n.1174-2732A>C
XM_017016412.1:c.889-2732A>C	XP_016871901.1:n.889-2732A>C
XM_017016413.1:c.871-2732A>C	XP_016871902.1:n.871-2732A>C
XM_024448078.1:c.-36-2732A>C	XP_024303846.1:n.-36-2732A>C
NM_001374781.1:c.-36-2732A>C	NP_001361710.1:n.-36-2732A>C