Canonical Allele Identifier: CA400752292

Gene: PRKAR1A

Linked Data

• ClinVar Variation Id: 855283
• ClinVar RCV Id: RCV001060519 ; RCV002445317
• dbSNP Id: rs2085658662
• gnomAD v4: 17-68522818-T-G
• MyVariant Identifiers: chr17:g.66518959T>G (hg19) ; chr17:g.68522818T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68522818T>G , CM000679.2:g.68522818T>G	GRCh38
NC_000017.10:g.66518959T>G , CM000679.1:g.66518959T>G	GRCh37
NC_000017.9:g.64030554T>G	NCBI36
NG_007093.3:g.114196T>G , LRG_514:g.114196T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.240T>G	ENSP00000468106.2:p.Asp80Glu
ENST00000711037.1:c.240T>G	ENSP00000518555.1:p.Asp80Glu
ENST00000585427.6:c.240T>G	ENSP00000464715.2:p.Asp80Glu
ENST00000585981.6:c.240T>G	ENSP00000467311.2:p.Asp80Glu
ENST00000588178.6:c.240T>G	ENSP00000465013.2:p.Asp80Glu
ENST00000589017.6:c.240T>G	ENSP00000465445.2:p.Asp80Glu
ENST00000589480.6:c.240T>G	ENSP00000466649.2:p.Asp80Glu
ENST00000592800.6:c.240T>G	ENSP00000466314.2:p.Asp80Glu
ENST00000686019.1:n.359T>G
ENST00000689501.1:n.5T>G
ENST00000691392.1:n.373T>G
ENST00000589228.6:c.240T>G MANE Select	ENSP00000464977.2:p.Asp80Glu
ENST00000358598.6:c.240T>G	ENSP00000351410.1:p.Asp80Glu
ENST00000392710.8:c.230T>G	ENSP00000376474.4:p.Met77Arg
ENST00000392711.5:c.240T>G	ENSP00000376475.1:p.Asp80Glu
ENST00000536854.6:c.240T>G	ENSP00000445625.1:p.Asp80Glu
ENST00000585427.5:c.240T>G	ENSP00000464715.1:p.Asp80Glu
ENST00000585460.1:n.365T>G
ENST00000585608.5:c.240T>G	ENSP00000466722.1:p.Asp80Glu
ENST00000585981.5:c.240T>G	ENSP00000467311.1:p.Asp80Glu
ENST00000586397.5:c.240T>G	ENSP00000466459.1:p.Asp80Glu
ENST00000588178.5:c.240T>G	ENSP00000465013.1:p.Asp80Glu
ENST00000588188.6:c.240T>G	ENSP00000468106.2:p.Asp80Glu
ENST00000588702.5:c.240T>G	ENSP00000464701.1:p.Asp80Glu
ENST00000589017.5:c.240T>G	ENSP00000465445.1:p.Asp80Glu
ENST00000589228.5:c.240T>G	ENSP00000464977.1:p.Asp80Glu
ENST00000589480.5:c.240T>G	ENSP00000466649.1:p.Asp80Glu
NM_001276289.1:c.240T>G	NP_001263218.1:p.Asp80Glu
NM_001276290.1:c.240T>G	NP_001263219.1:p.Asp80Glu
NM_001278433.1:c.240T>G	NP_001265362.1:p.Asp80Glu
NM_002734.4:c.240T>G , LRG_514t1:c.240T>G	NP_002725.1:p.Asp80Glu
NM_212471.2:c.240T>G	NP_997636.1:p.Asp80Glu
NM_212472.2:c.240T>G , LRG_514t2:c.240T>G	NP_997637.1:p.Asp80Glu
XM_011524983.1:c.240T>G	XP_011523285.1:p.Asp80Glu
XM_011524984.1:c.240T>G	XP_011523286.1:p.Asp80Glu
XM_011524985.1:c.240T>G	XP_011523287.1:p.Asp80Glu
XM_011524983.3:c.240T>G	XP_011523285.1:p.Asp80Glu
XM_011524984.3:c.240T>G	XP_011523286.1:p.Asp80Glu
XM_011524985.3:c.240T>G	XP_011523287.1:p.Asp80Glu
NM_001369389.1:c.240T>G	NP_001356318.1:p.Asp80Glu
NM_001369390.1:c.240T>G	NP_001356319.1:p.Asp80Glu
NM_002734.5:c.240T>G MANE Select	NP_002725.1:p.Asp80Glu
NM_001276289.2:c.240T>G	NP_001263218.1:p.Asp80Glu
NM_001278433.2:c.240T>G	NP_001265362.1:p.Asp80Glu
NM_212471.3:c.240T>G	NP_997636.1:p.Asp80Glu