Canonical Allele Identifier: CA5238823

Gene: PPP6C

Linked Data

• ClinVar Variation Id: 376508
• ClinVar RCV Id: RCV000430465 ; RCV000437241
• dbSNP Id: rs763733111
• ExAC: 9:127912080 G / A
• gnomAD v2: 9-127912080-G-A
• gnomAD v4: 9-125149801-G-A
• COSMIC: COSM221754 ; COSM1151204
• MyVariant Identifiers: chr9:g.127912080G>A (hg19) ; chr9:g.125149801G>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125149801G>A , CM000671.2:g.125149801G>A	GRCh38
NC_000009.11:g.127912080G>A , CM000671.1:g.127912080G>A	GRCh37
NC_000009.10:g.126951901G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373547.9:c.790C>T MANE Select	ENSP00000362648.4:p.Arg264Cys
ENST00000373547.8:c.790C>T	ENSP00000362648.4:p.Arg264Cys
ENST00000415905.5:c.724C>T	ENSP00000411744.1:p.Arg242Cys
ENST00000451402.5:c.901C>T	ENSP00000392147.1:p.Arg301Cys
NM_001123355.1:c.901C>T	NP_001116827.1:p.Arg301Cys
NM_001123369.1:c.724C>T	NP_001116841.1:p.Arg242Cys
NM_002721.4:c.790C>T	NP_002712.1:p.Arg264Cys
XM_011518847.1:c.754C>T	XP_011517149.1:p.Arg252Cys
XM_011518847.3:c.754C>T	XP_011517149.1:p.Arg252Cys
XM_024447607.1:c.349C>T	XP_024303375.1:p.Arg117Cys
NM_002721.5:c.790C>T MANE Select	NP_002712.1:p.Arg264Cys
NM_001123355.2:c.901C>T	NP_001116827.1:p.Arg301Cys
NM_001123369.2:c.724C>T	NP_001116841.1:p.Arg242Cys