Canonical Allele Identifier: CA173899303

Gene: PPP3CC

Linked Data

• dbSNP Id: rs922716753
• gnomAD v2: 8-22305044-T-C
• gnomAD v3: 8-22447531-T-C
• gnomAD v4: 8-22447531-T-C
• MyVariant Identifiers: chr8:g.22305044T>C (hg19) ; chr8:g.22447531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22447531T>C , CM000670.2:g.22447531T>C	GRCh38
NC_000008.10:g.22305044T>C , CM000670.1:g.22305044T>C	GRCh37
NC_000008.9:g.22360989T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000240139.10:c.49+6073T>C MANE Select	ENSP00000240139.5:n.49+6073T>C
ENST00000240139.9:c.49+6073T>C	ENSP00000240139.5:n.49+6073T>C
ENST00000289963.12:c.49+6073T>C	ENSP00000289963.8:n.49+6073T>C
ENST00000397775.7:c.49+6073T>C	ENSP00000380878.3:n.49+6073T>C
ENST00000518852.5:c.49+6073T>C	ENSP00000429379.1:n.49+6073T>C
ENST00000522000.1:c.94+6073T>C	ENSP00000428358.1:n.94+6073T>C
NM_001243974.1:c.49+6073T>C	NP_001230903.1:n.49+6073T>C
NM_001243975.1:c.49+6073T>C	NP_001230904.1:n.49+6073T>C
NM_005605.4:c.49+6073T>C	NP_005596.2:n.49+6073T>C
XM_005273564.1:c.49+6073T>C	XP_005273621.1:n.49+6073T>C
XR_949434.1:n.489+6073T>C
XR_949436.1:n.489+6073T>C
XM_017013611.2:c.49+6073T>C	XP_016869100.1:n.49+6073T>C
XR_001745553.2:n.406+6073T>C
XR_001745554.2:n.406+6073T>C
XR_001745555.2:n.406+6073T>C
XR_001745556.2:n.406+6073T>C
XR_001745557.2:n.406+6073T>C
XR_001745558.2:n.406+6073T>C
XR_001745559.2:n.406+6073T>C
NM_001243974.2:c.49+6073T>C	NP_001230903.1:n.49+6073T>C
NM_001243975.2:c.49+6073T>C	NP_001230904.1:n.49+6073T>C
NM_005605.5:c.49+6073T>C MANE Select	NP_005596.2:n.49+6073T>C