Canonical Allele Identifier: CA8729781

Gene: PRKAR1A FAM20A

Linked Data

• ClinVar Variation Id: 1473653
• ClinVar RCV Id: RCV001970798 ; RCV002492197
• dbSNP Id: rs771912912
• ExAC: 17:66537040 C / T
• gnomAD v2: 17-66537040-C-T
• gnomAD v4: 17-68540899-C-T
• COSMIC: COSM4270241
• MyVariant Identifiers: chr17:g.66537040C>T (hg19) ; chr17:g.66537040_66537043delinsTTGT (hg19) ; chr17:g.68540899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540899C>T , CM000679.2:g.68540899C>T	GRCh38
NC_000017.10:g.66537040C>T , CM000679.1:g.66537040C>T	GRCh37
NC_000017.9:g.64048635C>T	NCBI36
NG_007093.3:g.132277C>T , LRG_514:g.132277C>T
NG_029809.1:g.65056G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.974-10185C>T (PRKAR1A)	ENSP00000468106.2:n.974-10185C>T
ENST00000711037.1:c.974-10185C>T (PRKAR1A)	ENSP00000518555.1:n.974-10185C>T
ENST00000585981.6:c.974-10185C>T (PRKAR1A)	ENSP00000467311.2:n.974-10185C>T
ENST00000592554.2:c.1169G>A (FAM20A) MANE Select	ENSP00000468308.1:p.Ser390Asn
ENST00000226094.9:n.847G>A (FAM20A)
ENST00000375556.8:n.1093G>A (FAM20A)
ENST00000588188.6:c.974-10185C>T (PRKAR1A)	ENSP00000468106.2:n.974-10185C>T
ENST00000590074.5:c.1325G>A (FAM20A)
ENST00000590873.5:c.42-933G>A (FAM20A)	ENSP00000467884.1:n.42-933G>A
ENST00000592554.1:c.1169G>A (FAM20A)	ENSP00000468308.1:p.Ser390Asn
NM_001243746.1:c.755G>A (FAM20A)	NP_001230675.1:p.Ser252Asn
NM_001276290.1:c.974-10185C>T (PRKAR1A)	NP_001263219.1:n.974-10185C>T
NM_017565.3:c.1169G>A (FAM20A)	NP_060035.2:p.Ser390Asn
NR_027751.1:n.884G>A (FAM20A)
XM_006721959.2:c.755G>A (FAM20A)	XP_006722022.1:p.Ser252Asn
XM_006721960.2:c.*33G>A (FAM20A)	XP_006722023.1:n.*33G>A
XM_011524917.1:c.1049G>A (FAM20A)	XP_011523219.1:p.Ser350Asn
XM_011524918.1:c.*658G>A (FAM20A)	XP_011523220.1:n.*658G>A
XM_011524919.1:c.*1011G>A (FAM20A)	XP_011523221.1:n.*1011G>A
XM_011524920.1:c.*614G>A (FAM20A)	XP_011523222.1:n.*614G>A
XM_011524921.1:c.*33G>A (FAM20A)	XP_011523223.1:n.*33G>A
XR_934486.1:n.1297G>A (FAM20A)
XR_934487.1:n.1297G>A (FAM20A)
XR_934488.1:n.1607G>A (FAM20A)
XR_934489.1:n.1206G>A (FAM20A)
XR_934490.1:n.1206G>A (FAM20A)
XM_006721959.3:c.755G>A (FAM20A)	XP_006722022.1:p.Ser252Asn
XM_011524918.3:c.*658G>A (FAM20A)	XP_011523220.1:n.*658G>A
XM_017024781.2:c.*536G>A (FAM20A)	XP_016880270.1:n.*536G>A
XR_001752543.2:n.1482G>A (FAM20A)
XR_001752544.2:n.1265G>A (FAM20A)
XR_002958041.1:n.1240G>A (FAM20A)
XR_934487.3:n.1240G>A (FAM20A)
NM_017565.4:c.1169G>A (FAM20A) MANE Select	NP_060035.2:p.Ser390Asn
NM_001243746.2:c.755G>A (FAM20A)	NP_001230675.1:p.Ser252Asn
NR_027751.2:n.884G>A (FAM20A)