Canonical Allele Identifier: CA6664649

Gene: PPM1H

Linked Data

• ClinVar Variation Id: 2377824
• ClinVar RCV Id: RCV004209207
• dbSNP Id: rs778597878
• ExAC: 12:63114033 T / C
• gnomAD v2: 12-63114033-T-C
• gnomAD v3: 12-62720253-T-C
• gnomAD v4: 12-62720253-T-C
• MyVariant Identifiers: chr12:g.63114033T>C (hg19) ; chr12:g.62720253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.62720253T>C , CM000674.2:g.62720253T>C	GRCh38
NC_000012.11:g.63114033T>C , CM000674.1:g.63114033T>C	GRCh37
NC_000012.10:g.61400300T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228705.7:c.991A>G MANE Select	ENSP00000228705.5:p.Thr331Ala
ENST00000228705.6:c.991A>G	ENSP00000228705.5:p.Thr331Ala
ENST00000551214.5:n.393A>G
ENST00000551519.1:n.381A>G
NM_020700.1:c.991A>G	NP_065751.1:p.Thr331Ala
XM_011538578.1:c.877A>G	XP_011536880.1:p.Thr293Ala
XM_011538579.1:c.238A>G	XP_011536881.1:p.Thr80Ala
XM_011538578.2:c.877A>G	XP_011536880.1:p.Thr293Ala
XM_017019676.2:c.991A>G	XP_016875165.1:p.Thr331Ala
NM_020700.2:c.991A>G MANE Select	NP_065751.1:p.Thr331Ala