Canonical Allele Identifier: CA1444631992

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23813992T= , CM000666.2:g.23813992T=	GRCh38
NC_000004.11:g.23815615T= , CM000666.1:g.23815615T=	GRCh37
NC_000004.10:g.23424713T=	NCBI36
NG_028250.1:g.81086A=
NG_028250.2:g.663984A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1491A= MANE Select	ENSP00000264867.2:p.Leu497=
ENST00000264867.6:c.1491A=	ENSP00000264867.2:p.Leu497=
ENST00000506055.5:c.*706A=	ENSP00000423075.1:n.*706A=
ENST00000509702.5:n.1531A=
ENST00000613098.4:c.1110A=	ENSP00000481498.1:p.Leu370=
NM_013261.3:c.1491A=	NP_037393.1:p.Leu497=
XM_005248130.2:c.1506A=	XP_005248187.1:p.Leu502=
XM_005248131.3:c.1503A=	XP_005248188.1:p.Leu501=
XM_005248132.1:c.1482A=	XP_005248189.1:p.Leu494=
XM_005248134.3:c.1506A=	XP_005248191.1:p.Leu502=
XM_011513764.1:c.1491A=	XP_011512066.1:p.Leu497=
XM_011513765.1:c.1455A=	XP_011512067.1:p.Leu485=
XM_011513766.1:c.1386A=	XP_011512068.1:p.Leu462=
XM_011513767.1:c.1386A=	XP_011512069.1:p.Leu462=
XM_011513768.1:c.1386A=	XP_011512070.1:p.Leu462=
XM_011513769.1:c.1506A=	XP_011512071.1:p.Leu502=
XM_011513770.1:c.1110A=	XP_011512072.1:p.Leu370=
XM_011513771.1:c.1110A=	XP_011512073.1:p.Leu370=
NM_001330751.1:c.1506A=	NP_001317680.1:p.Leu502=
NM_001330752.1:c.1455A=	NP_001317681.1:p.Leu485=
NM_001330753.1:c.1110A=	NP_001317682.1:p.Leu370=
NM_001354825.1:c.1506A=	NP_001341754.1:p.Leu502=
NM_001354826.1:c.1110A=	NP_001341755.1:p.Leu370=
NM_001354827.1:c.1506A=	NP_001341756.1:p.Leu502=
NM_013261.4:c.1491A=	NP_037393.1:p.Leu497=
NR_148981.1:n.2018A=
NR_148982.1:n.2091A=
NR_148983.1:n.2244A=
NR_148984.1:n.1642A=
NR_148985.1:n.2156A=
NR_148986.1:n.2161A=
NR_148987.1:n.2243A=
XM_005248131.5:c.1503A=	XP_005248188.1:p.Leu501=
XM_005248134.4:c.1506A=	XP_005248191.1:p.Leu502=
XM_011513769.2:c.1506A=	XP_011512071.1:p.Leu502=
XM_024453878.1:c.1506A=	XP_024309646.1:p.Leu502=
NM_013261.5:c.1491A= MANE Select	NP_037393.1:p.Leu497=
NM_001330751.2:c.1506A=	NP_001317680.1:p.Leu502=
NM_001330752.2:c.1455A=	NP_001317681.1:p.Leu485=
NM_001354825.2:c.1506A=	NP_001341754.1:p.Leu502=
NM_001354826.2:c.1110A=	NP_001341755.1:p.Leu370=
NM_001354827.2:c.1506A=	NP_001341756.1:p.Leu502=
NR_148981.2:n.2094A=
NR_148982.2:n.2167A=
NR_148983.2:n.2320A=
NR_148984.2:n.1612A=
NR_148985.2:n.2232A=
NR_148986.2:n.2237A=
NR_148987.2:n.2319A=
NM_001330753.2:c.1110A=	NP_001317682.1:p.Leu370=