Canonical Allele Identifier: CA5224856

Gene: PTGS1

Linked Data

• dbSNP Id: rs200351496
• ExAC: 9:125143763 T / C
• gnomAD v2: 9-125143763-T-C
• gnomAD v3: 9-122381484-T-C
• gnomAD v4: 9-122381484-T-C
• MyVariant Identifiers: chr9:g.125143763T>C (hg19) ; chr9:g.122381484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.122381484T>C , CM000671.2:g.122381484T>C	GRCh38
NC_000009.11:g.125143763T>C , CM000671.1:g.125143763T>C	GRCh37
NC_000009.10:g.124183584T>C	NCBI36
NG_032900.1:g.15535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362012.7:c.610T>C MANE Select	ENSP00000354612.2:p.Phe204Leu
ENST00000373698.7:c.283T>C	ENSP00000362802.5:p.Phe95Leu
ENST00000426608.6:c.313-12T>C	ENSP00000411606.2:n.313-12T>C
ENST00000540753.6:c.535T>C	ENSP00000437709.1:p.Phe179Leu
ENST00000619306.5:c.466T>C	ENSP00000483540.2:p.Phe156Leu
ENST00000643576.1:n.704T>C
ENST00000643810.1:c.283T>C	ENSP00000494717.1:p.Phe95Leu
ENST00000645132.1:n.519+2911T>C
ENST00000647067.1:c.*455T>C	ENSP00000495728.1:n.*455T>C
ENST00000223423.8:c.610T>C	ENSP00000223423.4:p.Phe204Leu
ENST00000362012.6:c.610T>C	ENSP00000354612.2:p.Phe204Leu
ENST00000373698.6:c.283T>C	ENSP00000362802.5:p.Phe95Leu
ENST00000426608.5:c.304-12T>C	ENSP00000411606.1:n.304-12T>C
ENST00000540753.5:c.535T>C	ENSP00000437709.1:p.Phe179Leu
ENST00000614910.4:c.466T>C	ENSP00000484800.1:p.Phe156Leu
ENST00000619306.4:c.703T>C	ENSP00000483540.1:p.Phe235Leu
NM_000962.3:c.610T>C	NP_000953.2:p.Phe204Leu
NM_001271164.1:c.466T>C	NP_001258093.1:p.Phe156Leu
NM_001271165.1:c.283T>C	NP_001258094.1:p.Phe95Leu
NM_001271166.1:c.283T>C	NP_001258095.1:p.Phe95Leu
NM_001271367.1:c.283T>C	NP_001258296.1:p.Phe95Leu
NM_001271368.1:c.535T>C	NP_001258297.1:p.Phe179Leu
NM_080591.2:c.610T>C	NP_542158.1:p.Phe204Leu
XM_005252105.2:c.535T>C	XP_005252162.1:p.Phe179Leu
XM_011518875.1:c.535T>C	XP_011517177.1:p.Phe179Leu
XM_011518876.1:c.283T>C	XP_011517178.1:p.Phe95Leu
XM_005252105.3:c.535T>C	XP_005252162.1:p.Phe179Leu
XM_011518875.2:c.535T>C	XP_011517177.1:p.Phe179Leu
XM_011518876.2:c.283T>C	XP_011517178.1:p.Phe95Leu
XM_024447614.1:c.283T>C	XP_024303382.1:p.Phe95Leu
XM_024447615.1:c.283T>C	XP_024303383.1:p.Phe95Leu
NM_000962.4:c.610T>C MANE Select	NP_000953.2:p.Phe204Leu
NM_001271164.2:c.466T>C	NP_001258093.1:p.Phe156Leu
NM_001271165.2:c.283T>C	NP_001258094.1:p.Phe95Leu
NM_001271166.2:c.283T>C	NP_001258095.1:p.Phe95Leu
NM_001271367.2:c.283T>C	NP_001258296.1:p.Phe95Leu
NM_001271368.2:c.535T>C	NP_001258297.1:p.Phe179Leu
NM_080591.3:c.610T>C	NP_542158.1:p.Phe204Leu