Canonical Allele Identifier: CA128739

Gene: PRKAR1A FAM20A

Linked Data

• ClinVar Variation Id: 29907
• ClinVar RCV Id: RCV000022791 ; RCV000760318 ; RCV001824573 ; RCV001852002 ; RCV003398560
• dbSNP Id: rs387906692
• MyVariant Identifiers: chr17:g.66526546C>T (hg19) ; chr17:g.68530405C>T (hg38)
• PubMed: PMID:21651393 ; PMID:22464250 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68530405C>T , CM000679.2:g.68530405C>T	GRCh38
NC_000017.10:g.66526546C>T , CM000679.1:g.66526546C>T	GRCh37
NC_000017.9:g.64038141C>T	NCBI36
NG_007093.3:g.121783C>T , LRG_514:g.121783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.973+404C>T (PRKAR1A)	ENSP00000468106.2:n.973+404C>T
ENST00000711037.1:c.973+404C>T (PRKAR1A)	ENSP00000518555.1:n.973+404C>T
ENST00000585427.6:c.1102C>T (PRKAR1A)	ENSP00000464715.2:p.Arg368Ter
ENST00000585981.6:c.973+404C>T (PRKAR1A)	ENSP00000467311.2:n.973+404C>T
ENST00000588178.6:c.1102C>T (PRKAR1A)	ENSP00000465013.2:p.Arg368Ter
ENST00000589017.6:c.1102C>T (PRKAR1A)	ENSP00000465445.2:p.Arg368Ter
ENST00000589480.6:c.1102C>T (PRKAR1A)	ENSP00000466649.2:p.Arg368Ter
ENST00000592800.6:c.*327C>T (PRKAR1A)	ENSP00000466314.2:n.*327C>T
ENST00000686019.1:n.2149C>T (PRKAR1A)
ENST00000689501.1:n.3294C>T (PRKAR1A)
ENST00000691392.1:n.2069C>T (PRKAR1A)
ENST00000589228.6:c.1102C>T (PRKAR1A) MANE Select	ENSP00000464977.2:p.Arg368Ter
ENST00000358598.6:c.1102C>T (PRKAR1A)	ENSP00000351410.1:p.Arg368Ter
ENST00000392710.8:c.*717C>T (PRKAR1A)	ENSP00000376474.4:n.*717C>T
ENST00000392711.5:c.1102C>T (PRKAR1A)	ENSP00000376475.1:p.Arg368Ter
ENST00000536854.6:c.1102C>T (PRKAR1A)	ENSP00000445625.1:p.Arg368Ter
ENST00000586397.5:c.1102C>T (PRKAR1A)	ENSP00000466459.1:p.Arg368Ter
ENST00000586541.5:c.514C>T (PRKAR1A)
ENST00000588188.6:c.973+404C>T (PRKAR1A)	ENSP00000468106.2:n.973+404C>T
ENST00000589228.5:c.1102C>T (PRKAR1A)	ENSP00000464977.1:p.Arg368Ter
ENST00000592800.5:c.787C>T (PRKAR1A)
NM_001276289.1:c.1102C>T (PRKAR1A)	NP_001263218.1:p.Arg368Ter
NM_001276290.1:c.973+404C>T (PRKAR1A)	NP_001263219.1:n.973+404C>T
NM_001278433.1:c.1102C>T (PRKAR1A)	NP_001265362.1:p.Arg368Ter
NM_002734.4:c.1102C>T , LRG_514t1:c.1102C>T (PRKAR1A)	NP_002725.1:p.Arg368Ter
NM_212471.2:c.1102C>T (PRKAR1A)	NP_997636.1:p.Arg368Ter
NM_212472.2:c.1102C>T , LRG_514t2:c.1102C>T (PRKAR1A)	NP_997637.1:p.Arg368Ter
XM_011524983.1:c.1102C>T (PRKAR1A)	XP_011523285.1:p.Arg368Ter
XM_011524984.1:c.1102C>T (PRKAR1A)	XP_011523286.1:p.Arg368Ter
XM_011524985.1:c.1102C>T (PRKAR1A)	XP_011523287.1:p.Arg368Ter
XM_006721959.3:c.*7072G>A (FAM20A)	XP_006722022.1:n.*7072G>A
XM_011524983.3:c.1102C>T (PRKAR1A)	XP_011523285.1:p.Arg368Ter
XM_011524984.3:c.1102C>T (PRKAR1A)	XP_011523286.1:p.Arg368Ter
XM_011524985.3:c.1102C>T (PRKAR1A)	XP_011523287.1:p.Arg368Ter
XR_001752544.2:n.8794G>A (FAM20A)
XR_002958041.1:n.8946G>A (FAM20A)
NM_001369389.1:c.1102C>T (PRKAR1A)	NP_001356318.1:p.Arg368Ter
NM_001369390.1:c.1102C>T (PRKAR1A)	NP_001356319.1:p.Arg368Ter
NM_002734.5:c.1102C>T (PRKAR1A) MANE Select	NP_002725.1:p.Arg368Ter
NM_001276289.2:c.1102C>T (PRKAR1A)	NP_001263218.1:p.Arg368Ter
NM_001278433.2:c.1102C>T (PRKAR1A)	NP_001265362.1:p.Arg368Ter
NM_212471.3:c.1102C>T (PRKAR1A)	NP_997636.1:p.Arg368Ter