Canonical Allele Identifier: CA371378355

Gene: PLAG1

Linked Data

• ClinVar Variation Id: 3068518
• ClinVar RCV Id: RCV003993710
• gnomAD v4: 8-56167201-T-A
• MyVariant Identifiers: chr8:g.57079760T>A (hg19) ; chr8:g.56167201T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56167201T>A , CM000670.2:g.56167201T>A	GRCh38
NC_000008.10:g.57079760T>A , CM000670.1:g.57079760T>A	GRCh37
NC_000008.9:g.57242314T>A	NCBI36
NG_023310.1:g.49100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316981.8:c.545A>T MANE Select	ENSP00000325546.3:p.Glu182Val
ENST00000316981.7:c.545A>T	ENSP00000325546.3:p.Glu182Val
ENST00000423799.6:c.299A>T	ENSP00000404067.2:p.Glu100Val
ENST00000429357.2:c.545A>T	ENSP00000416537.2:p.Glu182Val
ENST00000522009.1:n.996A>T
NM_001114634.1:c.545A>T	NP_001108106.1:p.Glu182Val
NM_001114635.1:c.299A>T	NP_001108107.1:p.Glu100Val
NM_002655.2:c.545A>T	NP_002646.2:p.Glu182Val
XM_005251260.2:c.545A>T	XP_005251317.1:p.Glu182Val
XM_011517544.1:c.299A>T	XP_011515846.1:p.Glu100Val
XM_011517544.2:c.299A>T	XP_011515846.1:p.Glu100Val
XM_017013576.1:c.545A>T	XP_016869065.1:p.Glu182Val
XM_017013577.1:c.299A>T	XP_016869066.1:p.Glu100Val
NM_002655.3:c.545A>T MANE Select	NP_002646.2:p.Glu182Val
NM_001114634.2:c.545A>T	NP_001108106.1:p.Glu182Val
NM_001114635.2:c.299A>T	NP_001108107.1:p.Glu100Val