Canonical Allele Identifier: CA407182249

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52211326C>T , CM000681.2:g.52211326C>T	GRCh38
NC_000019.9:g.52714579C>T , CM000681.1:g.52714579C>T	GRCh37
NC_000019.8:g.57406391C>T	NCBI36
NG_047068.1:g.26525C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.337C>T MANE Select	NP_055040.2:p.Arg113Trp
ENST00000322088.11:c.337C>T MANE Select	ENSP00000324804.6:p.Arg113Trp
NM_001363656.1:c.-201C>T	NP_001350585.1:n.-201C>T
NM_001363656.2:c.-201C>T	NP_001350585.1:n.-201C>T
NM_014225.5:c.337C>T	NP_055040.2:p.Arg113Trp
NR_033500.1:n.531C>T
NR_033500.2:n.281C>T
ENST00000322088.10:c.337C>T	ENSP00000324804.6:p.Arg113Trp
ENST00000454220.6:c.457C>T	ENSP00000391905.2:p.Arg153Trp
ENST00000454220.7:c.457C>T	ENSP00000391905.3:p.Arg153Trp
ENST00000462990.5:c.-201C>T	ENSP00000470504.1:n.-201C>T
ENST00000468280.5:n.320C>T
ENST00000473455.2:n.436C>T
ENST00000490868.5:c.*345C>T	ENSP00000469150.1:n.*345C>T
ENST00000703395.1:c.-201C>T	ENSP00000515286.1:n.-201C>T
ENST00000703396.1:n.281C>T
ENST00000703397.1:c.-201C>T	ENSP00000515287.1:n.-201C>T
ENST00000703398.1:c.379C>T	ENSP00000515288.1:p.Arg127Trp
ENST00000703421.1:n.490C>T
ENST00000703422.1:c.313C>T	ENSP00000515292.1:p.Arg105Trp
ENST00000703423.1:c.-201C>T	ENSP00000515293.1:n.-201C>T