Canonical Allele Identifier: CA341230

Gene: PRKAR1A

Linked Data

• ClinVar Variation Id: 12672
• ClinVar RCV Id: RCV000013508
• dbSNP Id: rs281864798
• MyVariant Identifiers: chr17:g.66522054G>T (hg19) ; chr17:g.68525913G>T (hg38)
• PubMed: PMID:12424709 ; PMID:20301463

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68525913G>T , CM000679.2:g.68525913G>T	GRCh38
NC_000017.10:g.66522054G>T , CM000679.1:g.66522054G>T	GRCh37
NC_000017.9:g.64033649G>T	NCBI36
NG_007093.3:g.117291G>T , LRG_514:g.117291G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.708+1G>T	ENSP00000468106.2:n.708+1G>T
ENST00000711037.1:c.708+1G>T	ENSP00000518555.1:n.708+1G>T
ENST00000585427.6:c.708+1G>T	ENSP00000464715.2:n.708+1G>T
ENST00000585981.6:c.708+1G>T	ENSP00000467311.2:n.708+1G>T
ENST00000588178.6:c.708+1G>T	ENSP00000465013.2:n.708+1G>T
ENST00000589017.6:c.708+1G>T	ENSP00000465445.2:n.708+1G>T
ENST00000589480.6:c.708+1G>T	ENSP00000466649.2:n.708+1G>T
ENST00000592800.6:c.708+1G>T	ENSP00000466314.2:n.708+1G>T
ENST00000686019.1:n.827+1G>T
ENST00000689501.1:n.2900+1G>T
ENST00000691392.1:n.1675+1G>T
ENST00000589228.6:c.708+1G>T MANE Select	ENSP00000464977.2:n.708+1G>T
ENST00000358598.6:c.708+1G>T	ENSP00000351410.1:n.708+1G>T
ENST00000392710.8:c.*323+1G>T	ENSP00000376474.4:n.*323+1G>T
ENST00000392711.5:c.708+1G>T	ENSP00000376475.1:n.708+1G>T
ENST00000536854.6:c.708+1G>T	ENSP00000445625.1:n.708+1G>T
ENST00000585981.5:c.708+1G>T	ENSP00000467311.1:n.708+1G>T
ENST00000586397.5:c.708+1G>T	ENSP00000466459.1:n.708+1G>T
ENST00000586541.5:c.31+1G>T
ENST00000588188.6:c.708+1G>T	ENSP00000468106.2:n.708+1G>T
ENST00000589228.5:c.708+1G>T	ENSP00000464977.1:n.708+1G>T
ENST00000592800.5:c.118+1G>T
NM_001276289.1:c.708+1G>T	NP_001263218.1:n.708+1G>T
NM_001276290.1:c.708+1G>T	NP_001263219.1:n.708+1G>T
NM_001278433.1:c.708+1G>T	NP_001265362.1:n.708+1G>T
NM_002734.4:c.708+1G>T , LRG_514t1:c.708+1G>T	NP_002725.1:n.708+1G>T
NM_212471.2:c.708+1G>T	NP_997636.1:n.708+1G>T
NM_212472.2:c.708+1G>T , LRG_514t2:c.708+1G>T	NP_997637.1:n.708+1G>T
XM_011524983.1:c.708+1G>T	XP_011523285.1:n.708+1G>T
XM_011524984.1:c.708+1G>T	XP_011523286.1:n.708+1G>T
XM_011524985.1:c.708+1G>T	XP_011523287.1:n.708+1G>T
XM_011524983.3:c.708+1G>T	XP_011523285.1:n.708+1G>T
XM_011524984.3:c.708+1G>T	XP_011523286.1:n.708+1G>T
XM_011524985.3:c.708+1G>T	XP_011523287.1:n.708+1G>T
NM_001369389.1:c.708+1G>T	NP_001356318.1:n.708+1G>T
NM_001369390.1:c.708+1G>T	NP_001356319.1:n.708+1G>T
NM_002734.5:c.708+1G>T MANE Select	NP_002725.1:n.708+1G>T
NM_001276289.2:c.708+1G>T	NP_001263218.1:n.708+1G>T
NM_001278433.2:c.708+1G>T	NP_001265362.1:n.708+1G>T
NM_212471.3:c.708+1G>T	NP_997636.1:n.708+1G>T