Canonical Allele Identifier: CA4445038

Gene: PPP1R3A

Linked Data

• ClinVar Variation Id: 393401
• ClinVar RCV Id: RCV000445422 ; RCV003960013
• dbSNP Id: rs115322623
• ExAC: 7:113518507 T / A
• gnomAD v2: 7-113518507-T-A
• gnomAD v3: 7-113878452-T-A
• gnomAD v4: 7-113878452-T-A
• MyVariant Identifiers: chr7:g.113518507T>A (hg19) ; chr7:g.113878452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.113878452T>A , CM000669.2:g.113878452T>A	GRCh38
NC_000007.13:g.113518507T>A , CM000669.1:g.113518507T>A	GRCh37
NC_000007.12:g.113305743T>A	NCBI36
NG_012116.1:g.45576A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284601.4:c.2640A>T MANE Select	ENSP00000284601.3:p.Arg880Ser
ENST00000284601.3:c.2640A>T	ENSP00000284601.3:p.Arg880Ser
NM_002711.3:c.2640A>T	NP_002702.2:p.Arg880Ser
XM_005250473.2:c.2037A>T	XP_005250530.1:p.Arg679Ser
XM_005250473.3:c.2037A>T	XP_005250530.1:p.Arg679Ser
NM_002711.4:c.2640A>T MANE Select	NP_002702.2:p.Arg880Ser