Canonical Allele Identifier: CA400752249

Gene: PRKAR1A

Linked Data

• ClinVar Variation Id: 648708
• ClinVar RCV Id: RCV000803499 ; RCV003372858
• dbSNP Id: rs200069356
• gnomAD v4: 17-68522799-G-C
• MyVariant Identifiers: chr17:g.66518940G>C (hg19) ; chr17:g.68522799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68522799G>C , CM000679.2:g.68522799G>C	GRCh38
NC_000017.10:g.66518940G>C , CM000679.1:g.66518940G>C	GRCh37
NC_000017.9:g.64030535G>C	NCBI36
NG_007093.3:g.114177G>C , LRG_514:g.114177G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.221G>C	ENSP00000468106.2:p.Arg74Pro
ENST00000711037.1:c.221G>C	ENSP00000518555.1:p.Arg74Pro
ENST00000585427.6:c.221G>C	ENSP00000464715.2:p.Arg74Pro
ENST00000585981.6:c.221G>C	ENSP00000467311.2:p.Arg74Pro
ENST00000588178.6:c.221G>C	ENSP00000465013.2:p.Arg74Pro
ENST00000589017.6:c.221G>C	ENSP00000465445.2:p.Arg74Pro
ENST00000589480.6:c.221G>C	ENSP00000466649.2:p.Arg74Pro
ENST00000592800.6:c.221G>C	ENSP00000466314.2:p.Arg74Pro
ENST00000686019.1:n.340G>C
ENST00000691392.1:n.354G>C
ENST00000589228.6:c.221G>C MANE Select	ENSP00000464977.2:p.Arg74Pro
ENST00000358598.6:c.221G>C	ENSP00000351410.1:p.Arg74Pro
ENST00000392710.8:c.211G>C	ENSP00000376474.4:p.Val71Leu
ENST00000392711.5:c.221G>C	ENSP00000376475.1:p.Arg74Pro
ENST00000536854.6:c.221G>C	ENSP00000445625.1:p.Arg74Pro
ENST00000585427.5:c.221G>C	ENSP00000464715.1:p.Arg74Pro
ENST00000585460.1:n.346G>C
ENST00000585608.5:c.221G>C	ENSP00000466722.1:p.Arg74Pro
ENST00000585981.5:c.221G>C	ENSP00000467311.1:p.Arg74Pro
ENST00000586397.5:c.221G>C	ENSP00000466459.1:p.Arg74Pro
ENST00000588178.5:c.221G>C	ENSP00000465013.1:p.Arg74Pro
ENST00000588188.6:c.221G>C	ENSP00000468106.2:p.Arg74Pro
ENST00000588702.5:c.221G>C	ENSP00000464701.1:p.Arg74Pro
ENST00000589017.5:c.221G>C	ENSP00000465445.1:p.Arg74Pro
ENST00000589228.5:c.221G>C	ENSP00000464977.1:p.Arg74Pro
ENST00000589480.5:c.221G>C	ENSP00000466649.1:p.Arg74Pro
NM_001276289.1:c.221G>C	NP_001263218.1:p.Arg74Pro
NM_001276290.1:c.221G>C	NP_001263219.1:p.Arg74Pro
NM_001278433.1:c.221G>C	NP_001265362.1:p.Arg74Pro
NM_002734.4:c.221G>C , LRG_514t1:c.221G>C	NP_002725.1:p.Arg74Pro
NM_212471.2:c.221G>C	NP_997636.1:p.Arg74Pro
NM_212472.2:c.221G>C , LRG_514t2:c.221G>C	NP_997637.1:p.Arg74Pro
XM_011524983.1:c.221G>C	XP_011523285.1:p.Arg74Pro
XM_011524984.1:c.221G>C	XP_011523286.1:p.Arg74Pro
XM_011524985.1:c.221G>C	XP_011523287.1:p.Arg74Pro
XM_011524983.3:c.221G>C	XP_011523285.1:p.Arg74Pro
XM_011524984.3:c.221G>C	XP_011523286.1:p.Arg74Pro
XM_011524985.3:c.221G>C	XP_011523287.1:p.Arg74Pro
NM_001369389.1:c.221G>C	NP_001356318.1:p.Arg74Pro
NM_001369390.1:c.221G>C	NP_001356319.1:p.Arg74Pro
NM_002734.5:c.221G>C MANE Select	NP_002725.1:p.Arg74Pro
NM_001276289.2:c.221G>C	NP_001263218.1:p.Arg74Pro
NM_001278433.2:c.221G>C	NP_001265362.1:p.Arg74Pro
NM_212471.3:c.221G>C	NP_997636.1:p.Arg74Pro