Canonical Allele Identifier: CA2521828154

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814236_23814237insTGA , CM000666.2:g.23814236_23814237insTGA	GRCh38
NC_000004.11:g.23815859_23815860insTGA , CM000666.1:g.23815859_23815860insTGA	GRCh37
NC_000004.10:g.23424957_23424958insTGA	NCBI36
NG_028250.1:g.80841_80842insTCA
NG_028250.2:g.663739_663740insTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1246_1247insTCA MANE Select	ENSP00000264867.2:p.Ser416delinsPheThr
ENST00000264867.6:c.1246_1247insTCA	ENSP00000264867.2:p.Ser416delinsPheThr
ENST00000506055.5:c.*461_*462insTCA	ENSP00000423075.1:n.*461_*462insTCA
ENST00000509702.5:n.1286_1287insTCA
ENST00000613098.4:c.865_866insTCA	ENSP00000481498.1:p.Ser289delinsPheThr
NM_013261.3:c.1246_1247insTCA	NP_037393.1:p.Ser416delinsPheThr
XM_005248130.2:c.1261_1262insTCA	XP_005248187.1:p.Ser421delinsPheThr
XM_005248131.3:c.1258_1259insTCA	XP_005248188.1:p.Ser420delinsPheThr
XM_005248132.1:c.1237_1238insTCA	XP_005248189.1:p.Ser413delinsPheThr
XM_005248134.3:c.1261_1262insTCA	XP_005248191.1:p.Ser421delinsPheThr
XM_011513764.1:c.1246_1247insTCA	XP_011512066.1:p.Ser416delinsPheThr
XM_011513765.1:c.1210_1211insTCA	XP_011512067.1:p.Ser404delinsPheThr
XM_011513766.1:c.1141_1142insTCA	XP_011512068.1:p.Ser381delinsPheThr
XM_011513767.1:c.1141_1142insTCA	XP_011512069.1:p.Ser381delinsPheThr
XM_011513768.1:c.1141_1142insTCA	XP_011512070.1:p.Ser381delinsPheThr
XM_011513769.1:c.1261_1262insTCA	XP_011512071.1:p.Ser421delinsPheThr
XM_011513770.1:c.865_866insTCA	XP_011512072.1:p.Ser289delinsPheThr
XM_011513771.1:c.865_866insTCA	XP_011512073.1:p.Ser289delinsPheThr
NM_001330751.1:c.1261_1262insTCA	NP_001317680.1:p.Ser421delinsPheThr
NM_001330752.1:c.1210_1211insTCA	NP_001317681.1:p.Ser404delinsPheThr
NM_001330753.1:c.865_866insTCA	NP_001317682.1:p.Ser289delinsPheThr
NM_001354825.1:c.1261_1262insTCA	NP_001341754.1:p.Ser421delinsPheThr
NM_001354826.1:c.865_866insTCA	NP_001341755.1:p.Ser289delinsPheThr
NM_001354827.1:c.1261_1262insTCA	NP_001341756.1:p.Ser421delinsPheThr
NM_013261.4:c.1246_1247insTCA	NP_037393.1:p.Ser416delinsPheThr
NR_148981.1:n.1773_1774insTCA
NR_148982.1:n.1846_1847insTCA
NR_148983.1:n.1999_2000insTCA
NR_148984.1:n.1397_1398insTCA
NR_148985.1:n.1911_1912insTCA
NR_148986.1:n.1916_1917insTCA
NR_148987.1:n.1998_1999insTCA
XM_005248131.5:c.1258_1259insTCA	XP_005248188.1:p.Ser420delinsPheThr
XM_005248134.4:c.1261_1262insTCA	XP_005248191.1:p.Ser421delinsPheThr
XM_011513769.2:c.1261_1262insTCA	XP_011512071.1:p.Ser421delinsPheThr
XM_024453878.1:c.1261_1262insTCA	XP_024309646.1:p.Ser421delinsPheThr
NM_013261.5:c.1246_1247insTCA MANE Select	NP_037393.1:p.Ser416delinsPheThr
NM_001330751.2:c.1261_1262insTCA	NP_001317680.1:p.Ser421delinsPheThr
NM_001330752.2:c.1210_1211insTCA	NP_001317681.1:p.Ser404delinsPheThr
NM_001354825.2:c.1261_1262insTCA	NP_001341754.1:p.Ser421delinsPheThr
NM_001354826.2:c.865_866insTCA	NP_001341755.1:p.Ser289delinsPheThr
NM_001354827.2:c.1261_1262insTCA	NP_001341756.1:p.Ser421delinsPheThr
NR_148981.2:n.1849_1850insTCA
NR_148982.2:n.1922_1923insTCA
NR_148983.2:n.2075_2076insTCA
NR_148984.2:n.1367_1368insTCA
NR_148985.2:n.1987_1988insTCA
NR_148986.2:n.1992_1993insTCA
NR_148987.2:n.2074_2075insTCA
NM_001330753.2:c.865_866insTCA	NP_001317682.1:p.Ser289delinsPheThr