Canonical Allele Identifier: CA9530057
Gene: PTGIR HGNC NCBI
COSMIC:
COSM4999953 (not active)
MyVariant.info:
GRCh38 chr19:g.46623592G>A
GRCh37 chr19:g.47126849G>A
Revel Score:
ENST00000291294 (MANE Select) 0.292
gnomAD v2:
19:47126849 G / A
gnomAD v3:
19:46623592 G / A
gnomAD v4:
chr19-46623592-G-A
Joint Max Group AF 0.01243849 (EAS)
Genomes Max Group AF 0.01130186 (EAS)
Exomes Max Group AF 0.01230345 (EAS)
dbSNP:
4987262
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46623592G>A , CM000681.2:g.46623592G>A GRCh38
NC_000019.9:g.47126849G>A , CM000681.1:g.47126849G>A GRCh37
NC_000019.8:g.51818689G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291294.7:c.634C>T MANE Select ENSP00000291294.1:p.Arg212Cys
ENST00000291294.6:c.634C>T ENSP00000291294.1:p.Arg212Cys
ENST00000594275.1:c.-78-18C>T ENSP00000469408.1:n.-78-18C>T
ENST00000595460.1:n.1156C>T
ENST00000596260.1:c.634C>T ENSP00000468970.1:p.Arg212Cys
ENST00000597185.1:c.-195+1361C>T ENSP00000470566.1:n.-195+1361C>T
ENST00000598865.5:c.-3C>T ENSP00000470799.1:n.-3C>T
NM_000960.3:c.634C>T NP_000951.1:p.Arg212Cys
XM_005259093.2:c.634C>T XP_005259150.1:p.Arg212Cys
XM_005259095.2:c.634C>T XP_005259152.1:p.Arg212Cys
XR_243945.2:n.768C>T
XR_430206.2:n.768C>T
XR_935844.1:n.768C>T
XM_005259093.3:c.634C>T XP_005259150.1:p.Arg212Cys
XM_005259095.4:c.634C>T XP_005259152.1:p.Arg212Cys
XR_243945.3:n.742C>T
XR_430206.3:n.742C>T
XR_935844.2:n.742C>T
NM_000960.4:c.634C>T MANE Select NP_000951.1:p.Arg212Cys
Search 100 bp 5'
Search 100 bp 3'