Canonical Allele Identifier: CA467191141
Community Standard Title: NM_000962.4(PTGS1):c.709C>T (p.Leu237=)
Gene: PTGS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.122381694C>T , CM000671.2:g.122381694C>T GRCh38
NC_000009.11:g.125143973C>T , CM000671.1:g.125143973C>T GRCh37
NC_000009.10:g.124183794C>T NCBI36
NG_032900.1:g.15745C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000962.4:c.709C>T MANE Select NP_000953.2:p.Leu237=
ENST00000362012.7:c.709C>T MANE Select ENSP00000354612.2:p.Leu237=
NM_000962.3:c.709C>T NP_000953.2:p.Leu237=
NM_001271164.1:c.565C>T NP_001258093.1:p.Leu189=
NM_001271164.2:c.565C>T NP_001258093.1:p.Leu189=
NM_001271165.1:c.382C>T NP_001258094.1:p.Leu128=
NM_001271165.2:c.382C>T NP_001258094.1:p.Leu128=
NM_001271166.1:c.382C>T NP_001258095.1:p.Leu128=
NM_001271166.2:c.382C>T NP_001258095.1:p.Leu128=
NM_001271367.1:c.382C>T NP_001258296.1:p.Leu128=
NM_001271367.2:c.382C>T NP_001258296.1:p.Leu128=
NM_001271368.1:c.634C>T NP_001258297.1:p.Leu212=
NM_001271368.2:c.634C>T NP_001258297.1:p.Leu212=
NM_080591.2:c.709C>T NP_542158.1:p.Leu237=
NM_080591.3:c.709C>T NP_542158.1:p.Leu237=
ENST00000223423.8:c.709C>T ENSP00000223423.4:p.Leu237=
ENST00000362012.6:c.709C>T ENSP00000354612.2:p.Leu237=
ENST00000373698.6:c.382C>T ENSP00000362802.5:p.Leu128=
ENST00000373698.7:c.382C>T ENSP00000362802.5:p.Leu128=
ENST00000426608.5:c.391C>T ENSP00000411606.1:p.Leu131=
ENST00000426608.6:c.400C>T ENSP00000411606.2:p.Leu134=
ENST00000540753.5:c.634C>T ENSP00000437709.1:p.Leu212=
ENST00000540753.6:c.634C>T ENSP00000437709.1:p.Leu212=
ENST00000614910.4:c.565C>T ENSP00000484800.1:p.Leu189=
ENST00000619306.4:c.802C>T ENSP00000483540.1:p.Leu268=
ENST00000619306.5:c.565C>T ENSP00000483540.2:p.Leu189=
ENST00000643576.1:n.803C>T
ENST00000643810.1:c.382C>T ENSP00000494717.1:p.Leu128=
ENST00000645132.1:n.519+3121C>T
ENST00000647067.1:c.*554C>T ENSP00000495728.1:n.*554C>T
XM_005252105.2:c.634C>T XP_005252162.1:p.Leu212=
XM_005252105.3:c.634C>T XP_005252162.1:p.Leu212=
XM_011518875.1:c.634C>T XP_011517177.1:p.Leu212=
XM_011518875.2:c.634C>T XP_011517177.1:p.Leu212=
XM_011518876.1:c.382C>T XP_011517178.1:p.Leu128=
XM_011518876.2:c.382C>T XP_011517178.1:p.Leu128=
XM_024447614.1:c.382C>T XP_024303382.1:p.Leu128=
XM_024447615.1:c.382C>T XP_024303383.1:p.Leu128=