Canonical Allele Identifier: CA4445281
Gene: PPP1R3A HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.113879741C>T
GRCh37 chr7:g.113519796C>T
Revel Score:
ENST00000284601 (MANE Select) 0.012
ENST00000449795 0.012
gnomAD v2:
7:113519796 C / T
gnomAD v3:
7:113879741 C / T
gnomAD v4:
chr7-113879741-C-T
Joint Max Group AF 0.99780922 (NFE)
Genomes Max Group AF 0.99252597 (NFE)
Exomes Max Group AF 0.99779393 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.113879741C>T , CM000669.2:g.113879741C>T GRCh38
NC_000007.13:g.113519796C>T , CM000669.1:g.113519796C>T GRCh37
NC_000007.12:g.113307032C>T NCBI36
NG_012116.1:g.44287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284601.4:c.1351G>A MANE Select ENSP00000284601.3:p.Val451Met
ENST00000284601.3:c.1351G>A ENSP00000284601.3:p.Val451Met
ENST00000449795.5:c.388G>A ENSP00000401278.1:p.Val130Met
NM_002711.3:c.1351G>A NP_002702.2:p.Val451Met
XM_005250473.2:c.748G>A XP_005250530.1:p.Val250Met
XM_005250473.3:c.748G>A XP_005250530.1:p.Val250Met
NM_002711.4:c.1351G>A MANE Select NP_002702.2:p.Val451Met
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