Canonical Allele Identifier: CA407178566

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190146T>C , CM000681.2:g.52190146T>C	GRCh38
NC_000019.9:g.52693399T>C , CM000681.1:g.52693399T>C	GRCh37
NC_000019.8:g.57385211T>C	NCBI36
NG_047068.1:g.5345T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.50T>C MANE Select	NP_055040.2:p.Ile17Thr
ENST00000322088.11:c.50T>C MANE Select	ENSP00000324804.6:p.Ile17Thr
NM_014225.5:c.50T>C	NP_055040.2:p.Ile17Thr
NR_033500.1:n.345T>C
NR_033500.2:n.95T>C
ENST00000322088.10:c.50T>C	ENSP00000324804.6:p.Ile17Thr
ENST00000454220.6:c.50T>C	ENSP00000391905.2:p.Ile17Thr
ENST00000454220.7:c.50T>C	ENSP00000391905.3:p.Ile17Thr
ENST00000468280.5:n.33T>C
ENST00000477989.1:c.50T>C	ENSP00000471298.1:p.Ile17Thr
ENST00000490868.5:c.50T>C	ENSP00000469150.1:p.Ile17Thr
ENST00000628959.1:c.50T>C	ENSP00000485914.1:p.Ile17Thr
ENST00000703395.1:c.-459-11798T>C	ENSP00000515286.1:n.-459-11798T>C
ENST00000703396.1:n.95T>C
ENST00000703397.1:c.-685T>C	ENSP00000515287.1:n.-685T>C
ENST00000703398.1:c.50T>C	ENSP00000515288.1:p.Ile17Thr
ENST00000703421.1:n.231+990T>C
ENST00000703422.1:c.50T>C	ENSP00000515292.1:p.Ile17Thr