Canonical Allele Identifier: CA4445103

Gene: PPP1R3A

Linked Data

• ClinVar Variation Id: 393402
• ClinVar RCV Id: RCV000445490
• dbSNP Id: rs151310594
• ExAC: 7:113518880 G / A
• gnomAD v2: 7-113518880-G-A
• gnomAD v3: 7-113878825-G-A
• gnomAD v4: 7-113878825-G-A
• MyVariant Identifiers: chr7:g.113518880G>A (hg19) ; chr7:g.113878825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.113878825G>A , CM000669.2:g.113878825G>A	GRCh38
NC_000007.13:g.113518880G>A , CM000669.1:g.113518880G>A	GRCh37
NC_000007.12:g.113306116G>A	NCBI36
NG_012116.1:g.45203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284601.4:c.2267C>T MANE Select	ENSP00000284601.3:p.Pro756Leu
ENST00000284601.3:c.2267C>T	ENSP00000284601.3:p.Pro756Leu
NM_002711.3:c.2267C>T	NP_002702.2:p.Pro756Leu
XM_005250473.2:c.1664C>T	XP_005250530.1:p.Pro555Leu
XM_005250473.3:c.1664C>T	XP_005250530.1:p.Pro555Leu
NM_002711.4:c.2267C>T MANE Select	NP_002702.2:p.Pro756Leu