Canonical Allele Identifier: CA5224892
Community Standard Title: NM_000962.4(PTGS1):c.719A>C (p.Gln240Pro)
Gene: PTGS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.122381704A>C , CM000671.2:g.122381704A>C GRCh38
NC_000009.11:g.125143983A>C , CM000671.1:g.125143983A>C GRCh37
NC_000009.10:g.124183804A>C NCBI36
NG_032900.1:g.15755A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000962.4:c.719A>C MANE Select NP_000953.2:p.Gln240Pro
ENST00000362012.7:c.719A>C MANE Select ENSP00000354612.2:p.Gln240Pro
NM_000962.3:c.719A>C NP_000953.2:p.Gln240Pro
NM_001271164.1:c.575A>C NP_001258093.1:p.Gln192Pro
NM_001271164.2:c.575A>C NP_001258093.1:p.Gln192Pro
NM_001271165.1:c.392A>C NP_001258094.1:p.Gln131Pro
NM_001271165.2:c.392A>C NP_001258094.1:p.Gln131Pro
NM_001271166.1:c.392A>C NP_001258095.1:p.Gln131Pro
NM_001271166.2:c.392A>C NP_001258095.1:p.Gln131Pro
NM_001271367.1:c.392A>C NP_001258296.1:p.Gln131Pro
NM_001271367.2:c.392A>C NP_001258296.1:p.Gln131Pro
NM_001271368.1:c.644A>C NP_001258297.1:p.Gln215Pro
NM_001271368.2:c.644A>C NP_001258297.1:p.Gln215Pro
NM_080591.2:c.719A>C NP_542158.1:p.Gln240Pro
NM_080591.3:c.719A>C NP_542158.1:p.Gln240Pro
ENST00000223423.8:c.719A>C ENSP00000223423.4:p.Gln240Pro
ENST00000362012.6:c.719A>C ENSP00000354612.2:p.Gln240Pro
ENST00000373698.6:c.392A>C ENSP00000362802.5:p.Gln131Pro
ENST00000373698.7:c.392A>C ENSP00000362802.5:p.Gln131Pro
ENST00000426608.5:c.401A>C ENSP00000411606.1:p.Gln134Pro
ENST00000426608.6:c.410A>C ENSP00000411606.2:p.Gln137Pro
ENST00000540753.5:c.644A>C ENSP00000437709.1:p.Gln215Pro
ENST00000540753.6:c.644A>C ENSP00000437709.1:p.Gln215Pro
ENST00000614910.4:c.575A>C ENSP00000484800.1:p.Gln192Pro
ENST00000619306.4:c.812A>C ENSP00000483540.1:p.Gln271Pro
ENST00000619306.5:c.575A>C ENSP00000483540.2:p.Gln192Pro
ENST00000643576.1:n.813A>C
ENST00000643810.1:c.392A>C ENSP00000494717.1:p.Gln131Pro
ENST00000645132.1:n.519+3131A>C
ENST00000647067.1:c.*564A>C ENSP00000495728.1:n.*564A>C
XM_005252105.2:c.644A>C XP_005252162.1:p.Gln215Pro
XM_005252105.3:c.644A>C XP_005252162.1:p.Gln215Pro
XM_011518875.1:c.644A>C XP_011517177.1:p.Gln215Pro
XM_011518875.2:c.644A>C XP_011517177.1:p.Gln215Pro
XM_011518876.1:c.392A>C XP_011517178.1:p.Gln131Pro
XM_011518876.2:c.392A>C XP_011517178.1:p.Gln131Pro
XM_024447614.1:c.392A>C XP_024303382.1:p.Gln131Pro
XM_024447615.1:c.392A>C XP_024303383.1:p.Gln131Pro