Canonical Allele Identifier: CA4445035
Gene: PPP1R3A HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.113878447A>T
GRCh37 chr7:g.113518502A>T
Revel Score:
ENST00000284601 (MANE Select) 0.007
gnomAD v2:
7:113518502 A / T
gnomAD v3:
7:113878447 A / T
gnomAD v4:
chr7-113878447-A-T
Joint Max Group AF 0.99710386 (NFE)
Genomes Max Group AF 0.99177737 (NFE)
Exomes Max Group AF 0.99709221 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.113878447A>T , CM000669.2:g.113878447A>T GRCh38
NC_000007.13:g.113518502A>T , CM000669.1:g.113518502A>T GRCh37
NC_000007.12:g.113305738A>T NCBI36
NG_012116.1:g.45581T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284601.4:c.2645T>A MANE Select ENSP00000284601.3:p.Leu882His
ENST00000284601.3:c.2645T>A ENSP00000284601.3:p.Leu882His
NM_002711.3:c.2645T>A NP_002702.2:p.Leu882His
XM_005250473.2:c.2042T>A XP_005250530.1:p.Leu681His
XM_005250473.3:c.2042T>A XP_005250530.1:p.Leu681His
NM_002711.4:c.2645T>A MANE Select NP_002702.2:p.Leu882His
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