Canonical Allele Identifier: CA407189713

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52220192G>A , CM000681.2:g.52220192G>A	GRCh38
NC_000019.9:g.52723445G>A , CM000681.1:g.52723445G>A	GRCh37
NC_000019.8:g.57415257G>A	NCBI36
NG_047068.1:g.35391G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.1306G>A MANE Select	NP_055040.2:p.Val436Met
ENST00000322088.11:c.1306G>A MANE Select	ENSP00000324804.6:p.Val436Met
NM_001363656.1:c.769G>A	NP_001350585.1:p.Val257Met
NM_001363656.2:c.769G>A	NP_001350585.1:p.Val257Met
NM_014225.5:c.1306G>A	NP_055040.2:p.Val436Met
NR_033500.1:n.1500G>A
NR_033500.2:n.1250G>A
ENST00000322088.10:c.1306G>A	ENSP00000324804.6:p.Val436Met
ENST00000454220.7:c.1426G>A	ENSP00000391905.3:p.Val476Met
ENST00000462990.5:c.769G>A	ENSP00000470504.1:p.Val257Met
ENST00000703395.1:c.769G>A	ENSP00000515286.1:p.Val257Met
ENST00000703397.1:c.769G>A	ENSP00000515287.1:p.Val257Met
ENST00000703398.1:c.1348G>A	ENSP00000515288.1:p.Val450Met
ENST00000703401.1:c.312-1919G>A	ENSP00000515289.1:n.312-1919G>A
ENST00000703422.1:c.1282G>A	ENSP00000515292.1:p.Val428Met
ENST00000703423.1:c.769G>A	ENSP00000515293.1:p.Val257Met