Canonical Allele Identifier: CA501528993

Gene: PRKAR1A FAM20A

Linked Data

• gnomAD v4: 17-68540898-G-A
• COSMIC: COSM1385480
• MyVariant Identifiers: chr17:g.66537039G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540898G>A , CM000679.2:g.68540898G>A	GRCh38
NC_000017.10:g.66537039G>A , CM000679.1:g.66537039G>A	GRCh37
NC_000017.9:g.64048634G>A	NCBI36
NG_007093.3:g.132276G>A , LRG_514:g.132276G>A
NG_029809.1:g.65057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-10186G>A (PRKAR1A)	ENSP00000468106.2:n.974-10186G>A
ENST00000711037.1:c.974-10186G>A (PRKAR1A)	ENSP00000518555.1:n.974-10186G>A
ENST00000585981.6:c.974-10186G>A (PRKAR1A)	ENSP00000467311.2:n.974-10186G>A
ENST00000592554.2:c.1170C>T (FAM20A) MANE Select	ENSP00000468308.1:p.Ser390=
ENST00000226094.9:n.848C>T (FAM20A)
ENST00000375556.8:n.1094C>T (FAM20A)
ENST00000588188.6:c.974-10186G>A (PRKAR1A)	ENSP00000468106.2:n.974-10186G>A
ENST00000590074.5:c.1326C>T (FAM20A)
ENST00000590873.5:c.42-932C>T (FAM20A)	ENSP00000467884.1:n.42-932C>T
ENST00000592554.1:c.1170C>T (FAM20A)	ENSP00000468308.1:p.Ser390=
NM_001243746.1:c.756C>T (FAM20A)	NP_001230675.1:p.Ser252=
NM_001276290.1:c.974-10186G>A (PRKAR1A)	NP_001263219.1:n.974-10186G>A
NM_017565.3:c.1170C>T (FAM20A)	NP_060035.2:p.Ser390=
NR_027751.1:n.885C>T (FAM20A)
XM_006721959.2:c.756C>T (FAM20A)	XP_006722022.1:p.Ser252=
XM_006721960.2:c.*34C>T (FAM20A)	XP_006722023.1:n.*34C>T
XM_011524917.1:c.1050C>T (FAM20A)	XP_011523219.1:p.Ser350=
XM_011524918.1:c.*659C>T (FAM20A)	XP_011523220.1:n.*659C>T
XM_011524919.1:c.*1012C>T (FAM20A)	XP_011523221.1:n.*1012C>T
XM_011524920.1:c.*615C>T (FAM20A)	XP_011523222.1:n.*615C>T
XM_011524921.1:c.*34C>T (FAM20A)	XP_011523223.1:n.*34C>T
XR_934486.1:n.1298C>T (FAM20A)
XR_934487.1:n.1298C>T (FAM20A)
XR_934488.1:n.1608C>T (FAM20A)
XR_934489.1:n.1207C>T (FAM20A)
XR_934490.1:n.1207C>T (FAM20A)
XM_006721959.3:c.756C>T (FAM20A)	XP_006722022.1:p.Ser252=
XM_011524918.3:c.*659C>T (FAM20A)	XP_011523220.1:n.*659C>T
XM_017024781.2:c.*537C>T (FAM20A)	XP_016880270.1:n.*537C>T
XR_001752543.2:n.1483C>T (FAM20A)
XR_001752544.2:n.1266C>T (FAM20A)
XR_002958041.1:n.1241C>T (FAM20A)
XR_934487.3:n.1241C>T (FAM20A)
NM_017565.4:c.1170C>T (FAM20A) MANE Select	NP_060035.2:p.Ser390=
NM_001243746.2:c.756C>T (FAM20A)	NP_001230675.1:p.Ser252=
NR_027751.2:n.885C>T (FAM20A)