Canonical Allele Identifier: CA129918

Gene: PRKAR1A FAM20A

Linked Data

• ClinVar Variation Id: 35476
• ClinVar RCV Id: RCV000029151
• dbSNP Id: rs587776912
• ExAC: 17:66538952 T / C
• gnomAD v2: 17-66538952-T-C
• gnomAD v4: 17-68542811-T-C
• COSMIC: COSM4580019
• MyVariant Identifiers: chr17:g.66538952T>C (hg19) ; chr17:g.68542811T>C (hg38)
• PubMed: PMID:21990045

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68542811T>C , CM000679.2:g.68542811T>C	GRCh38
NC_000017.10:g.66538952T>C , CM000679.1:g.66538952T>C	GRCh37
NC_000017.9:g.64050547T>C	NCBI36
NG_007093.3:g.134189T>C , LRG_514:g.134189T>C
NG_029809.1:g.63144A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.974-8273T>C (PRKAR1A)	ENSP00000468106.2:n.974-8273T>C
ENST00000711037.1:c.974-8273T>C (PRKAR1A)	ENSP00000518555.1:n.974-8273T>C
ENST00000585981.6:c.974-8273T>C (PRKAR1A)	ENSP00000467311.2:n.974-8273T>C
ENST00000592554.2:c.813-2A>G (FAM20A) MANE Select	ENSP00000468308.1:n.813-2A>G
ENST00000226094.9:n.466-2A>G (FAM20A)
ENST00000588188.6:c.974-8273T>C (PRKAR1A)	ENSP00000468106.2:n.974-8273T>C
ENST00000590074.5:c.969-2A>G (FAM20A)
ENST00000590873.5:c.41+818A>G (FAM20A)	ENSP00000467884.1:n.41+818A>G
ENST00000592554.1:c.813-2A>G (FAM20A)	ENSP00000468308.1:n.813-2A>G
ENST00000592847.1:n.455-2A>G (FAM20A)
NM_001243746.1:c.399-2A>G (FAM20A)	NP_001230675.1:n.399-2A>G
NM_001276290.1:c.974-8273T>C (PRKAR1A)	NP_001263219.1:n.974-8273T>C
NM_017565.3:c.813-2A>G (FAM20A)	NP_060035.2:n.813-2A>G
NR_027751.1:n.503-2A>G (FAM20A)
XM_006721959.2:c.399-2A>G (FAM20A)	XP_006722022.1:n.399-2A>G
XM_006721960.2:c.813-2A>G (FAM20A)	XP_006722023.1:n.813-2A>G
XM_011524917.1:c.809-646A>G (FAM20A)	XP_011523219.1:n.809-646A>G
XM_011524918.1:c.813-2A>G (FAM20A)	XP_011523220.1:n.813-2A>G
XM_011524919.1:c.813-646A>G (FAM20A)	XP_011523221.1:n.813-646A>G
XM_011524920.1:c.813-646A>G (FAM20A)	XP_011523222.1:n.813-646A>G
XM_011524921.1:c.813-646A>G (FAM20A)	XP_011523223.1:n.813-646A>G
XR_429905.1:n.937-2A>G (FAM20A)
XR_934486.1:n.941-2A>G (FAM20A)
XR_934487.1:n.941-2A>G (FAM20A)
XR_934488.1:n.941-2A>G (FAM20A)
XR_934489.1:n.941-646A>G (FAM20A)
XR_934490.1:n.941-646A>G (FAM20A)
XM_006721959.3:c.399-2A>G (FAM20A)	XP_006722022.1:n.399-2A>G
XM_011524918.3:c.813-2A>G (FAM20A)	XP_011523220.1:n.813-2A>G
XM_017024781.2:c.813-2A>G (FAM20A)	XP_016880270.1:n.813-2A>G
XR_001752543.2:n.884-2A>G (FAM20A)
XR_001752544.2:n.884-2A>G (FAM20A)
XR_002958041.1:n.884-2A>G (FAM20A)
XR_429905.2:n.880-2A>G (FAM20A)
XR_934487.3:n.884-2A>G (FAM20A)
NM_017565.4:c.813-2A>G (FAM20A) MANE Select	NP_060035.2:n.813-2A>G
NM_001243746.2:c.399-2A>G (FAM20A)	NP_001230675.1:n.399-2A>G
NR_027751.2:n.503-2A>G (FAM20A)