Canonical Allele Identifier: CA2573154783

Gene: PRKAR1A

Linked Data

• ClinVar Variation Id: 1368681
• ClinVar RCV Id: RCV001874471
• dbSNP Id: rs2143350378

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68527849dup , CM000679.2:g.68527849dup	GRCh38
NC_000017.10:g.66523990dup , CM000679.1:g.66523990dup	GRCh37
NC_000017.9:g.64035585dup	NCBI36
NG_007093.3:g.119227dup , LRG_514:g.119227dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.718dup	ENSP00000468106.2:p.Leu240ProfsTer8
ENST00000711037.1:c.718dup	ENSP00000518555.1:p.Leu240ProfsTer8
ENST00000585427.6:c.718dup	ENSP00000464715.2:p.Leu240ProfsTer8
ENST00000585981.6:c.718dup	ENSP00000467311.2:p.Leu240ProfsTer8
ENST00000588178.6:c.718dup	ENSP00000465013.2:p.Leu240ProfsTer8
ENST00000589017.6:c.718dup	ENSP00000465445.2:p.Leu240ProfsTer8
ENST00000589480.6:c.718dup	ENSP00000466649.2:p.Leu240ProfsTer8
ENST00000592800.6:c.718dup	ENSP00000466314.2:p.Leu240ProfsTer8
ENST00000686019.1:n.837dup
ENST00000689501.1:n.2910dup
ENST00000691392.1:n.1685dup
ENST00000589228.6:c.718dup MANE Select	ENSP00000464977.2:p.Leu240ProfsTer8
ENST00000358598.6:c.718dup	ENSP00000351410.1:p.Leu240ProfsTer8
ENST00000392710.8:c.*333dup	ENSP00000376474.4:n.*333dup
ENST00000392711.5:c.718dup	ENSP00000376475.1:p.Leu240ProfsTer8
ENST00000536854.6:c.718dup	ENSP00000445625.1:p.Leu240ProfsTer8
ENST00000585907.1:n.266dup
ENST00000585981.5:c.718dup	ENSP00000467311.1:p.Leu240ProfsTer8
ENST00000586397.5:c.718dup	ENSP00000466459.1:p.Leu240ProfsTer8
ENST00000586541.5:c.41dup
ENST00000588188.6:c.718dup	ENSP00000468106.2:p.Leu240ProfsTer8
ENST00000589228.5:c.718dup	ENSP00000464977.1:p.Leu240ProfsTer8
ENST00000592800.5:c.128dup
NM_001276289.1:c.718dup	NP_001263218.1:p.Leu240ProfsTer8
NM_001276290.1:c.718dup	NP_001263219.1:p.Leu240ProfsTer8
NM_001278433.1:c.718dup	NP_001265362.1:p.Leu240ProfsTer8
NM_002734.4:c.718dup , LRG_514t1:c.718dup	NP_002725.1:p.Leu240ProfsTer8
NM_212471.2:c.718dup	NP_997636.1:p.Leu240ProfsTer8
NM_212472.2:c.718dup , LRG_514t2:c.718dup	NP_997637.1:p.Leu240ProfsTer8
XM_011524983.1:c.718dup	XP_011523285.1:p.Leu240ProfsTer8
XM_011524984.1:c.718dup	XP_011523286.1:p.Leu240ProfsTer8
XM_011524985.1:c.718dup	XP_011523287.1:p.Leu240ProfsTer8
XM_011524983.3:c.718dup	XP_011523285.1:p.Leu240ProfsTer8
XM_011524984.3:c.718dup	XP_011523286.1:p.Leu240ProfsTer8
XM_011524985.3:c.718dup	XP_011523287.1:p.Leu240ProfsTer8
NM_001369389.1:c.718dup	NP_001356318.1:p.Leu240ProfsTer8
NM_001369390.1:c.718dup	NP_001356319.1:p.Leu240ProfsTer8
NM_002734.5:c.718dup MANE Select	NP_002725.1:p.Leu240ProfsTer8
NM_001276289.2:c.718dup	NP_001263218.1:p.Leu240ProfsTer8
NM_001278433.2:c.718dup	NP_001265362.1:p.Leu240ProfsTer8
NM_212471.3:c.718dup	NP_997636.1:p.Leu240ProfsTer8