Canonical Allele Identifier: CA9621331
Community Standard Title: NM_014225.6(PPP2R1A):c.414C>T (p.Gly138=)
Gene: PPP2R1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52211403C>T , CM000681.2:g.52211403C>T GRCh38
NC_000019.9:g.52714656C>T , CM000681.1:g.52714656C>T GRCh37
NC_000019.8:g.57406468C>T NCBI36
NG_047068.1:g.26602C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014225.6:c.414C>T MANE Select NP_055040.2:p.Gly138=
ENST00000322088.11:c.414C>T MANE Select ENSP00000324804.6:p.Gly138=
NM_001363656.1:c.-124C>T NP_001350585.1:n.-124C>T
NM_001363656.2:c.-124C>T NP_001350585.1:n.-124C>T
NM_014225.5:c.414C>T NP_055040.2:p.Gly138=
NR_033500.1:n.608C>T
NR_033500.2:n.358C>T
ENST00000322088.10:c.414C>T ENSP00000324804.6:p.Gly138=
ENST00000454220.6:c.534C>T ENSP00000391905.2:p.Gly178=
ENST00000454220.7:c.534C>T ENSP00000391905.3:p.Gly178=
ENST00000462990.5:c.-124C>T ENSP00000470504.1:n.-124C>T
ENST00000468280.5:n.397C>T
ENST00000473455.2:n.513C>T
ENST00000490868.5:c.*422C>T ENSP00000469150.1:n.*422C>T
ENST00000703395.1:c.-124C>T ENSP00000515286.1:n.-124C>T
ENST00000703396.1:n.358C>T
ENST00000703397.1:c.-124C>T ENSP00000515287.1:n.-124C>T
ENST00000703398.1:c.456C>T ENSP00000515288.1:p.Gly152=
ENST00000703421.1:n.567C>T
ENST00000703422.1:c.390C>T ENSP00000515292.1:p.Gly130=
ENST00000703423.1:c.-124C>T ENSP00000515293.1:n.-124C>T