Canonical Allele Identifier: CA407182974

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52211461G>C , CM000681.2:g.52211461G>C	GRCh38
NC_000019.9:g.52714714G>C , CM000681.1:g.52714714G>C	GRCh37
NC_000019.8:g.57406526G>C	NCBI36
NG_047068.1:g.26660G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.472G>C MANE Select	NP_055040.2:p.Val158Leu
ENST00000322088.11:c.472G>C MANE Select	ENSP00000324804.6:p.Val158Leu
NM_001363656.1:c.-66G>C	NP_001350585.1:n.-66G>C
NM_001363656.2:c.-66G>C	NP_001350585.1:n.-66G>C
NM_014225.5:c.472G>C	NP_055040.2:p.Val158Leu
NR_033500.1:n.666G>C
NR_033500.2:n.416G>C
ENST00000322088.10:c.472G>C	ENSP00000324804.6:p.Val158Leu
ENST00000454220.6:c.592G>C	ENSP00000391905.2:p.Val198Leu
ENST00000454220.7:c.592G>C	ENSP00000391905.3:p.Val198Leu
ENST00000462990.5:c.-66G>C	ENSP00000470504.1:n.-66G>C
ENST00000468280.5:n.455G>C
ENST00000473455.2:n.571G>C
ENST00000490868.5:c.*480G>C	ENSP00000469150.1:n.*480G>C
ENST00000703395.1:c.-66G>C	ENSP00000515286.1:n.-66G>C
ENST00000703396.1:n.416G>C
ENST00000703397.1:c.-66G>C	ENSP00000515287.1:n.-66G>C
ENST00000703398.1:c.514G>C	ENSP00000515288.1:p.Val172Leu
ENST00000703421.1:n.625G>C
ENST00000703422.1:c.448G>C	ENSP00000515292.1:p.Val150Leu
ENST00000703423.1:c.-66G>C	ENSP00000515293.1:n.-66G>C