Canonical Allele Identifier: CA9621269
Community Standard Title: NM_014225.6(PPP2R1A):c.169+12G>A
Gene: PPP2R1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52202046G>A , CM000681.2:g.52202046G>A GRCh38
NC_000019.9:g.52705299G>A , CM000681.1:g.52705299G>A GRCh37
NC_000019.8:g.57397111G>A NCBI36
NG_047068.1:g.17245G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014225.6:c.169+12G>A MANE Select NP_055040.2:n.169+12G>A
ENST00000322088.11:c.169+12G>A MANE Select ENSP00000324804.6:n.169+12G>A
NM_001363656.1:c.-369+12G>A NP_001350585.1:n.-369+12G>A
NM_001363656.2:c.-369+12G>A NP_001350585.1:n.-369+12G>A
NM_014225.5:c.169+12G>A NP_055040.2:n.169+12G>A
NR_033500.1:n.464+12G>A
NR_033500.2:n.214+12G>A
ENST00000322088.10:c.169+12G>A ENSP00000324804.6:n.169+12G>A
ENST00000454220.6:c.289+12G>A ENSP00000391905.2:n.289+12G>A
ENST00000454220.7:c.289+12G>A ENSP00000391905.3:n.289+12G>A
ENST00000462990.5:c.-369+12G>A ENSP00000470504.1:n.-369+12G>A
ENST00000468280.5:n.152+12G>A
ENST00000473455.2:n.268+12G>A
ENST00000490868.5:c.*177+12G>A ENSP00000469150.1:n.*177+12G>A
ENST00000495876.5:n.424+12G>A
ENST00000703395.1:c.-369+12G>A ENSP00000515286.1:n.-369+12G>A
ENST00000703396.1:n.214+12G>A
ENST00000703397.1:c.-369+12G>A ENSP00000515287.1:n.-369+12G>A
ENST00000703398.1:c.169+12G>A ENSP00000515288.1:n.169+12G>A
ENST00000703399.1:n.547+12G>A
ENST00000703421.1:n.322+12G>A
ENST00000703422.1:c.145+36G>A ENSP00000515292.1:n.145+36G>A
ENST00000703423.1:c.-369+12G>A ENSP00000515293.1:n.-369+12G>A