Canonical Allele Identifier: CA2760744717

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873216_23873217insAAAAAAGAA , CM000666.2:g.23873216_23873217insAAAAAAGAA	GRCh38
NC_000004.11:g.23874839_23874840insAAAAAAGAA , CM000666.1:g.23874839_23874840insAAAAAAGAA	GRCh37
NC_000004.10:g.23483937_23483938insAAAAAAGAA	NCBI36
NG_028250.1:g.21863_21864insCTTTTTTTT
NG_028250.2:g.604761_604762insCTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11537_234+11538insCTTTTTTTT MANE Select	ENSP00000264867.2:n.234+11537_234+11538insCTTTTTTTT
ENST00000264867.6:c.234+11537_234+11538insCTTTTTTTT	ENSP00000264867.2:n.234+11537_234+11538insCTTTTTTTT
ENST00000506055.5:c.234+11537_234+11538insCTTTTTTTT	ENSP00000423075.1:n.234+11537_234+11538insCTTTTTTTT
ENST00000507342.5:n.314+11537_314+11538insCTTTTTTTT
ENST00000508380.1:n.154+8743_154+8744insCTTTTTTTT
ENST00000509642.5:n.327+4499_327+4500insCTTTTTTTT
ENST00000509702.5:n.191+8706_191+8707insCTTTTTTTT
ENST00000512169.1:n.327+4499_327+4500insCTTTTTTTT
ENST00000513205.5:c.234+11537_234+11538insCTTTTTTTT	ENSP00000421632.1:n.234+11537_234+11538insCTTTTTTTT
ENST00000515534.5:n.307-6969_307-6968insCTTTTTTTT
ENST00000612355.1:c.222+11537_222+11538insCTTTTTTTT	ENSP00000479729.1:n.222+11537_222+11538insCTTTTTTTT
ENST00000613098.4:c.-148+7514_-148+7515insCTTTTTTTT	ENSP00000481498.1:n.-148+7514_-148+7515insCTTTTTTTT
ENST00000617484.4:c.222+11537_222+11538insCTTTTTTTT	ENSP00000477921.1:n.222+11537_222+11538insCTTTTTTTT
NM_013261.3:c.234+11537_234+11538insCTTTTTTTT	NP_037393.1:n.234+11537_234+11538insCTTTTTTTT
XM_005248130.2:c.249+11537_249+11538insCTTTTTTTT	XP_005248187.1:n.249+11537_249+11538insCTTTTTTTT
XM_005248131.3:c.246+11537_246+11538insCTTTTTTTT	XP_005248188.1:n.246+11537_246+11538insCTTTTTTTT
XM_005248132.1:c.225+11537_225+11538insCTTTTTTTT	XP_005248189.1:n.225+11537_225+11538insCTTTTTTTT
XM_005248134.3:c.249+11537_249+11538insCTTTTTTTT	XP_005248191.1:n.249+11537_249+11538insCTTTTTTTT
XM_011513764.1:c.234+11537_234+11538insCTTTTTTTT	XP_011512066.1:n.234+11537_234+11538insCTTTTTTTT
XM_011513765.1:c.198+11537_198+11538insCTTTTTTTT	XP_011512067.1:n.198+11537_198+11538insCTTTTTTTT
XM_011513766.1:c.129+4499_129+4500insCTTTTTTTT	XP_011512068.1:n.129+4499_129+4500insCTTTTTTTT
XM_011513767.1:c.129+4499_129+4500insCTTTTTTTT	XP_011512069.1:n.129+4499_129+4500insCTTTTTTTT
XM_011513768.1:c.129+4499_129+4500insCTTTTTTTT	XP_011512070.1:n.129+4499_129+4500insCTTTTTTTT
XM_011513769.1:c.249+11537_249+11538insCTTTTTTTT	XP_011512071.1:n.249+11537_249+11538insCTTTTTTTT
XM_011513770.1:c.-148+7514_-148+7515insCTTTTTTTT	XP_011512072.1:n.-148+7514_-148+7515insCTTTTTTTT
XM_011513771.1:c.-148+8743_-148+8744insCTTTTTTTT	XP_011512073.1:n.-148+8743_-148+8744insCTTTTTTTT
NM_001330751.1:c.249+11537_249+11538insCTTTTTTTT	NP_001317680.1:n.249+11537_249+11538insCTTTTTTTT
NM_001330752.1:c.198+11537_198+11538insCTTTTTTTT	NP_001317681.1:n.198+11537_198+11538insCTTTTTTTT
NM_001330753.1:c.-148+7514_-148+7515insCTTTTTTTT	NP_001317682.1:n.-148+7514_-148+7515insCTTTTTTTT
NM_001354825.1:c.249+11537_249+11538insCTTTTTTTT	NP_001341754.1:n.249+11537_249+11538insCTTTTTTTT
NM_001354826.1:c.-148+11096_-148+11097insCTTTTTTTT	NP_001341755.1:n.-148+11096_-148+11097insCTTTTTTTT
NM_001354827.1:c.249+11537_249+11538insCTTTTTTTT	NP_001341756.1:n.249+11537_249+11538insCTTTTTTTT
NM_013261.4:c.234+11537_234+11538insCTTTTTTTT	NP_037393.1:n.234+11537_234+11538insCTTTTTTTT
NR_148981.1:n.700+11537_700+11538insCTTTTTTTT
NR_148982.1:n.803+11537_803+11538insCTTTTTTTT
NR_148983.1:n.956+4499_956+4500insCTTTTTTTT
NR_148984.1:n.354+11537_354+11538insCTTTTTTTT
NR_148985.1:n.868+11537_868+11538insCTTTTTTTT
NR_148986.1:n.700+11537_700+11538insCTTTTTTTT
NR_148987.1:n.700+11537_700+11538insCTTTTTTTT
XM_005248131.5:c.246+11537_246+11538insCTTTTTTTT	XP_005248188.1:n.246+11537_246+11538insCTTTTTTTT
XM_005248134.4:c.249+11537_249+11538insCTTTTTTTT	XP_005248191.1:n.249+11537_249+11538insCTTTTTTTT
XM_011513769.2:c.249+11537_249+11538insCTTTTTTTT	XP_011512071.1:n.249+11537_249+11538insCTTTTTTTT
XM_024453878.1:c.249+11537_249+11538insCTTTTTTTT	XP_024309646.1:n.249+11537_249+11538insCTTTTTTTT
NM_013261.5:c.234+11537_234+11538insCTTTTTTTT MANE Select	NP_037393.1:n.234+11537_234+11538insCTTTTTTTT
NM_001330751.2:c.249+11537_249+11538insCTTTTTTTT	NP_001317680.1:n.249+11537_249+11538insCTTTTTTTT
NM_001330752.2:c.198+11537_198+11538insCTTTTTTTT	NP_001317681.1:n.198+11537_198+11538insCTTTTTTTT
NM_001354825.2:c.249+11537_249+11538insCTTTTTTTT	NP_001341754.1:n.249+11537_249+11538insCTTTTTTTT
NM_001354826.2:c.-148+11096_-148+11097insCTTTTTTTT	NP_001341755.1:n.-148+11096_-148+11097insCTTTTTTTT
NM_001354827.2:c.249+11537_249+11538insCTTTTTTTT	NP_001341756.1:n.249+11537_249+11538insCTTTTTTTT
NR_148981.2:n.776+11537_776+11538insCTTTTTTTT
NR_148982.2:n.879+11537_879+11538insCTTTTTTTT
NR_148983.2:n.1032+4499_1032+4500insCTTTTTTTT
NR_148984.2:n.324+11537_324+11538insCTTTTTTTT
NR_148985.2:n.944+11537_944+11538insCTTTTTTTT
NR_148986.2:n.776+11537_776+11538insCTTTTTTTT
NR_148987.2:n.776+11537_776+11538insCTTTTTTTT
NM_001330753.2:c.-148+7514_-148+7515insCTTTTTTTT	NP_001317682.1:n.-148+7514_-148+7515insCTTTTTTTT