Canonical Allele Identifier: CA351619989

Gene: PPARG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12417098T>C , CM000665.2:g.12417098T>C	GRCh38
NC_000003.11:g.12458597T>C , CM000665.1:g.12458597T>C	GRCh37
NC_000003.10:g.12433597T>C	NCBI36
NG_011749.1:g.134249T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138711.6:c.1124T>C MANE Select	NP_619725.3:p.Leu375Pro
ENST00000651735.1:c.1124T>C MANE Select	ENSP00000498313.1:p.Leu375Pro
NM_001330615.1:c.735+11017T>C	NP_001317544.1:n.735+11017T>C
NM_001330615.2:c.735+11017T>C	NP_001317544.1:n.735+11017T>C
NM_001330615.4:c.729+11017T>C	NP_001317544.2:n.729+11017T>C
NM_001354666.1:c.1130T>C	NP_001341595.1:p.Leu377Pro
NM_001354666.2:c.1130T>C	NP_001341595.1:p.Leu377Pro
NM_001354666.3:c.1124T>C	NP_001341595.2:p.Leu375Pro
NM_001354667.1:c.1130T>C	NP_001341596.1:p.Leu377Pro
NM_001354667.2:c.1130T>C	NP_001341596.1:p.Leu377Pro
NM_001354667.3:c.1124T>C	NP_001341596.2:p.Leu375Pro
NM_001354669.1:c.497T>C	NP_001341598.1:p.Leu166Pro
NM_001354669.2:c.497T>C	NP_001341598.1:p.Leu166Pro
NM_001374261.1:c.735+11017T>C	NP_001361190.1:n.735+11017T>C
NM_001374261.3:c.729+11017T>C	NP_001361190.2:n.729+11017T>C
NM_001374262.1:c.735+11017T>C	NP_001361191.1:n.735+11017T>C
NM_001374262.3:c.729+11017T>C	NP_001361191.2:n.729+11017T>C
NM_001374263.1:c.1130T>C	NP_001361192.1:p.Leu377Pro
NM_001374263.2:c.1124T>C	NP_001361192.2:p.Leu375Pro
NM_001374264.1:c.1130T>C	NP_001361193.1:p.Leu377Pro
NM_001374264.2:c.1124T>C	NP_001361193.2:p.Leu375Pro
NM_001374265.1:c.819+11017T>C	NP_001361194.1:n.819+11017T>C
NM_001374266.1:c.653+11099T>C	NP_001361195.1:n.653+11099T>C
NM_005037.5:c.1130T>C	NP_005028.4:p.Leu377Pro
NM_005037.6:c.1130T>C	NP_005028.4:p.Leu377Pro
NM_005037.7:c.1124T>C	NP_005028.5:p.Leu375Pro
NM_015869.4:c.1214T>C	NP_056953.2:p.Leu405Pro
NM_015869.5:c.1214T>C	NP_056953.2:p.Leu405Pro
NM_138711.3:c.1130T>C	NP_619725.2:p.Leu377Pro
NM_138711.4:c.1130T>C	NP_619725.2:p.Leu377Pro
NM_138712.3:c.1130T>C	NP_619726.2:p.Leu377Pro
NM_138712.4:c.1130T>C	NP_619726.2:p.Leu377Pro
NM_138712.5:c.1124T>C	NP_619726.3:p.Leu375Pro
ENST00000287820.10:c.1214T>C	ENSP00000287820.6:p.Leu405Pro
ENST00000309576.10:c.1130T>C	ENSP00000312472.6:p.Leu377Pro
ENST00000309576.11:c.1124T>C	ENSP00000312472.7:p.Leu375Pro
ENST00000396999.2:c.1273T>C	ENSP00000380195.2:n.1273T>C
ENST00000396999.3:c.*712T>C	ENSP00000380195.3:n.*712T>C
ENST00000397000.5:c.735+11017T>C	ENSP00000380196.1:n.735+11017T>C
ENST00000397000.6:c.729+11017T>C	ENSP00000380196.2:n.729+11017T>C
ENST00000397010.6:c.1130T>C	ENSP00000380205.2:p.Leu377Pro
ENST00000397010.7:c.1124T>C	ENSP00000380205.3:p.Leu375Pro
ENST00000397012.6:c.1130T>C	ENSP00000380207.2:p.Leu377Pro
ENST00000397015.6:c.1130T>C	ENSP00000380210.2:p.Leu377Pro
ENST00000397015.7:c.1124T>C	ENSP00000380210.3:p.Leu375Pro
ENST00000397023.5:c.*1352T>C	ENSP00000380218.1:n.*1352T>C
ENST00000397026.6:c.1148T>C	ENSP00000380221.2:p.Leu383Pro
ENST00000397026.7:c.1124T>C	ENSP00000380221.3:p.Leu375Pro
ENST00000643197.2:c.1124T>C	ENSP00000495840.2:p.Leu375Pro
ENST00000643888.2:c.1124T>C	ENSP00000494934.2:p.Leu375Pro
ENST00000644622.2:c.1124T>C	ENSP00000494873.2:p.Leu375Pro
ENST00000652098.1:c.578T>C	ENSP00000498300.1:p.Leu193Pro
ENST00000652431.1:c.812T>C	ENSP00000498717.1:p.Leu271Pro
ENST00000652522.1:c.1124T>C	ENSP00000498500.1:p.Leu375Pro
ENST00000681966.1:c.*378T>C	ENSP00000507572.1:n.*378T>C
ENST00000681982.1:c.1124T>C	ENSP00000508065.1:p.Leu375Pro
ENST00000682125.1:n.1169T>C
ENST00000682446.1:c.1124T>C	ENSP00000506813.1:p.Leu375Pro
ENST00000682494.1:n.4024T>C
ENST00000682604.1:n.1367T>C
ENST00000683586.1:c.1124T>C	ENSP00000507893.1:p.Leu375Pro
ENST00000683599.1:n.173T>C
ENST00000683699.1:c.819+11017T>C	ENSP00000507823.1:n.819+11017T>C
ENST00000683700.1:c.977T>C	ENSP00000508248.1:p.Leu326Pro
ENST00000684065.1:c.*466+11017T>C	ENSP00000508347.1:n.*466+11017T>C
ENST00000684094.1:n.1766T>C
XM_011533840.1:c.1130T>C	XP_011532142.1:p.Leu377Pro
XM_011533841.1:c.1130T>C	XP_011532143.1:p.Leu377Pro
XM_011533842.1:c.1214T>C	XP_011532144.1:p.Leu405Pro
XM_011533842.2:c.1214T>C	XP_011532144.1:p.Leu405Pro
XM_011533843.1:c.819+11017T>C	XP_011532145.1:n.819+11017T>C
XM_011533843.2:c.819+11017T>C	XP_011532145.1:n.819+11017T>C
XM_011533844.1:c.735+11017T>C	XP_011532146.1:n.735+11017T>C
XM_024453604.1:c.1130T>C	XP_024309372.1:p.Leu377Pro
XM_024453605.1:c.1130T>C	XP_024309373.1:p.Leu377Pro
XM_024453606.1:c.1130T>C	XP_024309374.1:p.Leu377Pro