Canonical Allele Identifier: CA4445264
Gene: PPP1R3A HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.113879664A>T
GRCh38 chr7:g.113879664_113879669delinsTTTTTT
GRCh37 chr7:g.113519719A>T
GRCh37 chr7:g.113519719_113519724delinsTTTTTT
Revel Score:
ENST00000284601 (MANE Select) 0.036
ENST00000449795 0.036
gnomAD v2:
7:113519719 A / T
gnomAD v3:
7:113879664 A / T
gnomAD v4:
chr7-113879664-A-T
Joint Max Group AF 0.99845694 (NFE)
Genomes Max Group AF 0.99366981 (NFE)
Exomes Max Group AF 0.99841114 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.113879664A>T , CM000669.2:g.113879664A>T GRCh38
NC_000007.13:g.113519719A>T , CM000669.1:g.113519719A>T GRCh37
NC_000007.12:g.113306955A>T NCBI36
NG_012116.1:g.44364T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284601.4:c.1428T>A MANE Select ENSP00000284601.3:p.Asn476Lys
ENST00000284601.3:c.1428T>A ENSP00000284601.3:p.Asn476Lys
ENST00000449795.5:c.465T>A ENSP00000401278.1:p.Asn155Lys
NM_002711.3:c.1428T>A NP_002702.2:p.Asn476Lys
XM_005250473.2:c.825T>A XP_005250530.1:p.Asn275Lys
XM_005250473.3:c.825T>A XP_005250530.1:p.Asn275Lys
NM_002711.4:c.1428T>A MANE Select NP_002702.2:p.Asn476Lys
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