Canonical Allele Identifier: CA5224839

Gene: PTGS1

Linked Data

• dbSNP Id: rs757344876
• ExAC: 9:125143676 C / T
• gnomAD v2: 9-125143676-C-T
• MyVariant Identifiers: chr9:g.125143676C>T (hg19) ; chr9:g.122381397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.122381397C>T , CM000671.2:g.122381397C>T	GRCh38
NC_000009.11:g.125143676C>T , CM000671.1:g.125143676C>T	GRCh37
NC_000009.10:g.124183497C>T	NCBI36
NG_032900.1:g.15448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362012.7:c.523C>T MANE Select	ENSP00000354612.2:p.Leu175Phe
ENST00000373698.7:c.196C>T	ENSP00000362802.5:p.Leu66Phe
ENST00000426608.6:c.313-99C>T	ENSP00000411606.2:n.313-99C>T
ENST00000540753.6:c.448C>T	ENSP00000437709.1:p.Leu150Phe
ENST00000619306.5:c.379C>T	ENSP00000483540.2:p.Leu127Phe
ENST00000643576.1:n.617C>T
ENST00000643810.1:c.196C>T	ENSP00000494717.1:p.Leu66Phe
ENST00000645132.1:n.519+2824C>T
ENST00000647067.1:c.*368C>T	ENSP00000495728.1:n.*368C>T
ENST00000223423.8:c.523C>T	ENSP00000223423.4:p.Leu175Phe
ENST00000362012.6:c.523C>T	ENSP00000354612.2:p.Leu175Phe
ENST00000373698.6:c.196C>T	ENSP00000362802.5:p.Leu66Phe
ENST00000426608.5:c.304-99C>T	ENSP00000411606.1:n.304-99C>T
ENST00000540753.5:c.448C>T	ENSP00000437709.1:p.Leu150Phe
ENST00000614910.4:c.379C>T	ENSP00000484800.1:p.Leu127Phe
ENST00000619306.4:c.616C>T	ENSP00000483540.1:p.Leu206Phe
NM_000962.3:c.523C>T	NP_000953.2:p.Leu175Phe
NM_001271164.1:c.379C>T	NP_001258093.1:p.Leu127Phe
NM_001271165.1:c.196C>T	NP_001258094.1:p.Leu66Phe
NM_001271166.1:c.196C>T	NP_001258095.1:p.Leu66Phe
NM_001271367.1:c.196C>T	NP_001258296.1:p.Leu66Phe
NM_001271368.1:c.448C>T	NP_001258297.1:p.Leu150Phe
NM_080591.2:c.523C>T	NP_542158.1:p.Leu175Phe
XM_005252105.2:c.448C>T	XP_005252162.1:p.Leu150Phe
XM_011518875.1:c.448C>T	XP_011517177.1:p.Leu150Phe
XM_011518876.1:c.196C>T	XP_011517178.1:p.Leu66Phe
XM_005252105.3:c.448C>T	XP_005252162.1:p.Leu150Phe
XM_011518875.2:c.448C>T	XP_011517177.1:p.Leu150Phe
XM_011518876.2:c.196C>T	XP_011517178.1:p.Leu66Phe
XM_024447614.1:c.196C>T	XP_024303382.1:p.Leu66Phe
XM_024447615.1:c.196C>T	XP_024303383.1:p.Leu66Phe
NM_000962.4:c.523C>T MANE Select	NP_000953.2:p.Leu175Phe
NM_001271164.2:c.379C>T	NP_001258093.1:p.Leu127Phe
NM_001271165.2:c.196C>T	NP_001258094.1:p.Leu66Phe
NM_001271166.2:c.196C>T	NP_001258095.1:p.Leu66Phe
NM_001271367.2:c.196C>T	NP_001258296.1:p.Leu66Phe
NM_001271368.2:c.448C>T	NP_001258297.1:p.Leu150Phe
NM_080591.3:c.523C>T	NP_542158.1:p.Leu175Phe