Canonical Allele Identifier: CA508635226

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52211439C>G , CM000681.2:g.52211439C>G	GRCh38
NC_000019.9:g.52714692C>G , CM000681.1:g.52714692C>G	GRCh37
NC_000019.8:g.57406504C>G	NCBI36
NG_047068.1:g.26638C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.450C>G MANE Select	NP_055040.2:p.Leu150=
ENST00000322088.11:c.450C>G MANE Select	ENSP00000324804.6:p.Leu150=
NM_001363656.1:c.-88C>G	NP_001350585.1:n.-88C>G
NM_001363656.2:c.-88C>G	NP_001350585.1:n.-88C>G
NM_014225.5:c.450C>G	NP_055040.2:p.Leu150=
NR_033500.1:n.644C>G
NR_033500.2:n.394C>G
ENST00000322088.10:c.450C>G	ENSP00000324804.6:p.Leu150=
ENST00000454220.6:c.570C>G	ENSP00000391905.2:p.Leu190=
ENST00000454220.7:c.570C>G	ENSP00000391905.3:p.Leu190=
ENST00000462990.5:c.-88C>G	ENSP00000470504.1:n.-88C>G
ENST00000468280.5:n.433C>G
ENST00000473455.2:n.549C>G
ENST00000490868.5:c.*458C>G	ENSP00000469150.1:n.*458C>G
ENST00000703395.1:c.-88C>G	ENSP00000515286.1:n.-88C>G
ENST00000703396.1:n.394C>G
ENST00000703397.1:c.-88C>G	ENSP00000515287.1:n.-88C>G
ENST00000703398.1:c.492C>G	ENSP00000515288.1:p.Leu164=
ENST00000703421.1:n.603C>G
ENST00000703422.1:c.426C>G	ENSP00000515292.1:p.Leu142=
ENST00000703423.1:c.-88C>G	ENSP00000515293.1:n.-88C>G