Canonical Allele Identifier: CA351619255

Gene: PPARG

Linked Data

• dbSNP Id: rs2051072328
• gnomAD v4: 3-12416774-C-T
• MyVariant Identifiers: chr3:g.12458273C>T (hg19) ; chr3:g.12416774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12416774C>T , CM000665.2:g.12416774C>T	GRCh38
NC_000003.11:g.12458273C>T , CM000665.1:g.12458273C>T	GRCh37
NC_000003.10:g.12433273C>T	NCBI36
NG_011749.1:g.133925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681966.1:c.*54C>T	ENSP00000507572.1:n.*54C>T
ENST00000681982.1:c.800C>T	ENSP00000508065.1:p.Pro267Leu
ENST00000682125.1:n.845C>T
ENST00000682446.1:c.800C>T	ENSP00000506813.1:p.Pro267Leu
ENST00000682494.1:n.3700C>T
ENST00000682604.1:n.1043C>T
ENST00000683586.1:c.800C>T	ENSP00000507893.1:p.Pro267Leu
ENST00000683699.1:c.819+10693C>T	ENSP00000507823.1:n.819+10693C>T
ENST00000683700.1:c.653C>T	ENSP00000508248.1:p.Pro218Leu
ENST00000684065.1:c.*466+10693C>T	ENSP00000508347.1:n.*466+10693C>T
ENST00000684094.1:n.1442C>T
ENST00000309576.11:c.800C>T	ENSP00000312472.7:p.Pro267Leu
ENST00000396999.3:c.*388C>T	ENSP00000380195.3:n.*388C>T
ENST00000397000.6:c.729+10693C>T	ENSP00000380196.2:n.729+10693C>T
ENST00000397010.7:c.800C>T	ENSP00000380205.3:p.Pro267Leu
ENST00000397015.7:c.800C>T	ENSP00000380210.3:p.Pro267Leu
ENST00000397026.7:c.800C>T	ENSP00000380221.3:p.Pro267Leu
ENST00000643197.2:c.800C>T	ENSP00000495840.2:p.Pro267Leu
ENST00000643888.2:c.800C>T	ENSP00000494934.2:p.Pro267Leu
ENST00000644622.2:c.800C>T	ENSP00000494873.2:p.Pro267Leu
ENST00000651735.1:c.800C>T MANE Select	ENSP00000498313.1:p.Pro267Leu
ENST00000652098.1:c.254C>T	ENSP00000498300.1:p.Pro85Leu
ENST00000652431.1:c.488C>T	ENSP00000498717.1:p.Pro163Leu
ENST00000652522.1:c.800C>T	ENSP00000498500.1:p.Pro267Leu
ENST00000287820.10:c.890C>T	ENSP00000287820.6:p.Pro297Leu
ENST00000309576.10:c.806C>T	ENSP00000312472.6:p.Pro269Leu
ENST00000396999.2:c.949C>T	ENSP00000380195.2:n.949C>T
ENST00000397000.5:c.735+10693C>T	ENSP00000380196.1:n.735+10693C>T
ENST00000397010.6:c.806C>T	ENSP00000380205.2:p.Pro269Leu
ENST00000397012.6:c.806C>T	ENSP00000380207.2:p.Pro269Leu
ENST00000397015.6:c.806C>T	ENSP00000380210.2:p.Pro269Leu
ENST00000397023.5:c.*1028C>T	ENSP00000380218.1:n.*1028C>T
ENST00000397026.6:c.824C>T	ENSP00000380221.2:p.Pro275Leu
NM_005037.5:c.806C>T	NP_005028.4:p.Pro269Leu
NM_015869.4:c.890C>T	NP_056953.2:p.Pro297Leu
NM_138711.3:c.806C>T	NP_619725.2:p.Pro269Leu
NM_138712.3:c.806C>T	NP_619726.2:p.Pro269Leu
XM_011533840.1:c.806C>T	XP_011532142.1:p.Pro269Leu
XM_011533841.1:c.806C>T	XP_011532143.1:p.Pro269Leu
XM_011533842.1:c.890C>T	XP_011532144.1:p.Pro297Leu
XM_011533843.1:c.819+10693C>T	XP_011532145.1:n.819+10693C>T
XM_011533844.1:c.735+10693C>T	XP_011532146.1:n.735+10693C>T
NM_001330615.1:c.735+10693C>T	NP_001317544.1:n.735+10693C>T
NM_001354666.1:c.806C>T	NP_001341595.1:p.Pro269Leu
NM_001354667.1:c.806C>T	NP_001341596.1:p.Pro269Leu
NM_001354669.1:c.173C>T	NP_001341598.1:p.Pro58Leu
XM_011533842.2:c.890C>T	XP_011532144.1:p.Pro297Leu
XM_011533843.2:c.819+10693C>T	XP_011532145.1:n.819+10693C>T
XM_024453604.1:c.806C>T	XP_024309372.1:p.Pro269Leu
XM_024453605.1:c.806C>T	XP_024309373.1:p.Pro269Leu
XM_024453606.1:c.806C>T	XP_024309374.1:p.Pro269Leu
NM_001330615.2:c.735+10693C>T	NP_001317544.1:n.735+10693C>T
NM_001354666.2:c.806C>T	NP_001341595.1:p.Pro269Leu
NM_001354667.2:c.806C>T	NP_001341596.1:p.Pro269Leu
NM_001354669.2:c.173C>T	NP_001341598.1:p.Pro58Leu
NM_001374261.1:c.735+10693C>T	NP_001361190.1:n.735+10693C>T
NM_001374262.1:c.735+10693C>T	NP_001361191.1:n.735+10693C>T
NM_001374263.1:c.806C>T	NP_001361192.1:p.Pro269Leu
NM_001374264.1:c.806C>T	NP_001361193.1:p.Pro269Leu
NM_001374265.1:c.819+10693C>T	NP_001361194.1:n.819+10693C>T
NM_001374266.1:c.653+10775C>T	NP_001361195.1:n.653+10775C>T
NM_005037.6:c.806C>T	NP_005028.4:p.Pro269Leu
NM_015869.5:c.890C>T	NP_056953.2:p.Pro297Leu
NM_138711.4:c.806C>T	NP_619725.2:p.Pro269Leu
NM_138712.4:c.806C>T	NP_619726.2:p.Pro269Leu
NM_001330615.4:c.729+10693C>T	NP_001317544.2:n.729+10693C>T
NM_001354666.3:c.800C>T	NP_001341595.2:p.Pro267Leu
NM_001354667.3:c.800C>T	NP_001341596.2:p.Pro267Leu
NM_001374261.3:c.729+10693C>T	NP_001361190.2:n.729+10693C>T
NM_001374262.3:c.729+10693C>T	NP_001361191.2:n.729+10693C>T
NM_001374263.2:c.800C>T	NP_001361192.2:p.Pro267Leu
NM_001374264.2:c.800C>T	NP_001361193.2:p.Pro267Leu
NM_005037.7:c.800C>T	NP_005028.5:p.Pro267Leu
NM_138711.6:c.800C>T MANE Select	NP_619725.3:p.Pro267Leu
NM_138712.5:c.800C>T	NP_619726.3:p.Pro267Leu