Canonical Allele Identifier: CA199664
Community Standard Title: NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)
Gene: PPP2R1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52212718C>T , CM000681.2:g.52212718C>T GRCh38
NC_000019.9:g.52715971C>T , CM000681.1:g.52715971C>T GRCh37
NC_000019.8:g.57407783C>T NCBI36
NG_047068.1:g.27917C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014225.6:c.536C>T MANE Select NP_055040.2:p.Pro179Leu
ENST00000322088.11:c.536C>T MANE Select ENSP00000324804.6:p.Pro179Leu
NM_001363656.1:c.-2C>T NP_001350585.1:n.-2C>T
NM_001363656.2:c.-2C>T NP_001350585.1:n.-2C>T
NM_014225.5:c.536C>T NP_055040.2:p.Pro179Leu
NR_033500.1:n.730C>T
NR_033500.2:n.480C>T
ENST00000322088.10:c.536C>T ENSP00000324804.6:p.Pro179Leu
ENST00000454220.6:c.656C>T ENSP00000391905.2:p.Pro219Leu
ENST00000454220.7:c.656C>T ENSP00000391905.3:p.Pro219Leu
ENST00000462047.1:n.227C>T
ENST00000462990.5:c.-2C>T ENSP00000470504.1:n.-2C>T
ENST00000703395.1:c.-2C>T ENSP00000515286.1:n.-2C>T
ENST00000703396.1:n.480C>T
ENST00000703397.1:c.-2C>T ENSP00000515287.1:n.-2C>T
ENST00000703398.1:c.578C>T ENSP00000515288.1:p.Pro193Leu
ENST00000703421.1:n.689C>T
ENST00000703422.1:c.512C>T ENSP00000515292.1:p.Pro171Leu
ENST00000703423.1:c.-2C>T ENSP00000515293.1:n.-2C>T