Canonical Allele Identifier: CA400757768

Gene: PRKAR1A FAM20A

Linked Data

• MyVariant Identifiers: chr17:g.66537038G>C (hg19) ; chr17:g.68540897G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540897G>C , CM000679.2:g.68540897G>C	GRCh38
NC_000017.10:g.66537038G>C , CM000679.1:g.66537038G>C	GRCh37
NC_000017.9:g.64048633G>C	NCBI36
NG_007093.3:g.132275G>C , LRG_514:g.132275G>C
NG_029809.1:g.65058C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.974-10187G>C (PRKAR1A)	ENSP00000468106.2:n.974-10187G>C
ENST00000711037.1:c.974-10187G>C (PRKAR1A)	ENSP00000518555.1:n.974-10187G>C
ENST00000585981.6:c.974-10187G>C (PRKAR1A)	ENSP00000467311.2:n.974-10187G>C
ENST00000592554.2:c.1171C>G (FAM20A) MANE Select	ENSP00000468308.1:p.Gln391Glu
ENST00000226094.9:n.849C>G (FAM20A)
ENST00000375556.8:n.1095C>G (FAM20A)
ENST00000588188.6:c.974-10187G>C (PRKAR1A)	ENSP00000468106.2:n.974-10187G>C
ENST00000590074.5:c.1327C>G (FAM20A)
ENST00000590873.5:c.42-931C>G (FAM20A)	ENSP00000467884.1:n.42-931C>G
ENST00000592554.1:c.1171C>G (FAM20A)	ENSP00000468308.1:p.Gln391Glu
NM_001243746.1:c.757C>G (FAM20A)	NP_001230675.1:p.Gln253Glu
NM_001276290.1:c.974-10187G>C (PRKAR1A)	NP_001263219.1:n.974-10187G>C
NM_017565.3:c.1171C>G (FAM20A)	NP_060035.2:p.Gln391Glu
NR_027751.1:n.886C>G (FAM20A)
XM_006721959.2:c.757C>G (FAM20A)	XP_006722022.1:p.Gln253Glu
XM_006721960.2:c.*35C>G (FAM20A)	XP_006722023.1:n.*35C>G
XM_011524917.1:c.1051C>G (FAM20A)	XP_011523219.1:p.Gln351Glu
XM_011524918.1:c.*660C>G (FAM20A)	XP_011523220.1:n.*660C>G
XM_011524919.1:c.*1013C>G (FAM20A)	XP_011523221.1:n.*1013C>G
XM_011524920.1:c.*616C>G (FAM20A)	XP_011523222.1:n.*616C>G
XM_011524921.1:c.*35C>G (FAM20A)	XP_011523223.1:n.*35C>G
XR_934486.1:n.1299C>G (FAM20A)
XR_934487.1:n.1299C>G (FAM20A)
XR_934488.1:n.1609C>G (FAM20A)
XR_934489.1:n.1208C>G (FAM20A)
XR_934490.1:n.1208C>G (FAM20A)
XM_006721959.3:c.757C>G (FAM20A)	XP_006722022.1:p.Gln253Glu
XM_011524918.3:c.*660C>G (FAM20A)	XP_011523220.1:n.*660C>G
XM_017024781.2:c.*538C>G (FAM20A)	XP_016880270.1:n.*538C>G
XR_001752543.2:n.1484C>G (FAM20A)
XR_001752544.2:n.1267C>G (FAM20A)
XR_002958041.1:n.1242C>G (FAM20A)
XR_934487.3:n.1242C>G (FAM20A)
NM_017565.4:c.1171C>G (FAM20A) MANE Select	NP_060035.2:p.Gln391Glu
NM_001243746.2:c.757C>G (FAM20A)	NP_001230675.1:p.Gln253Glu
NR_027751.2:n.886C>G (FAM20A)