Canonical Allele Identifier: CA10925591
Gene: PLPPR5 HGNC NCBI
PLPPR5-AS1 HGNC NCBI
COSMIC:
COSN6474930 (not active)
MyVariant.info:
GRCh38 chr1:g.99123823C>T
GRCh37 chr1:g.99589379C>T
gnomAD v2:
1:99589379 C / T
gnomAD v3:
1:99123823 C / T
gnomAD v4:
chr1-99123823-C-T
Joint Max Group AF 0.7285493 (SAS)
Genomes Max Group AF 0.7285493 (SAS)
dbSNP:
303386
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99123823C>T , CM000663.2:g.99123823C>T GRCh38
NC_000001.10:g.99589379C>T , CM000663.1:g.99589379C>T GRCh37
NC_000001.9:g.99361967C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696571.1:c.-6-8155G>A (PLPPR5) ENSP00000512726.1:n.-6-8155G>A
NR_033940.1:n.371-20213C>T (PLPPR5-AS1)
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