Canonical Allele Identifier: CA1060221313

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873197-C-CATAAA
• gnomAD v4: 4-23873197-C-CATAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873198_23873199insTAAAA , CM000666.2:g.23873198_23873199insTAAAA	GRCh38
NC_000004.11:g.23874821_23874822insTAAAA , CM000666.1:g.23874821_23874822insTAAAA	GRCh37
NC_000004.10:g.23483919_23483920insTAAAA	NCBI36
NG_028250.1:g.21880_21881insTTTAT
NG_028250.2:g.604778_604779insTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11554_234+11555insTTTAT MANE Select	ENSP00000264867.2:n.234+11554_234+11555insTTTAT
ENST00000264867.6:c.234+11554_234+11555insTTTAT	ENSP00000264867.2:n.234+11554_234+11555insTTTAT
ENST00000506055.5:c.234+11554_234+11555insTTTAT	ENSP00000423075.1:n.234+11554_234+11555insTTTAT
ENST00000507342.5:n.314+11554_314+11555insTTTAT
ENST00000508380.1:n.154+8760_154+8761insTTTAT
ENST00000509642.5:n.327+4516_327+4517insTTTAT
ENST00000509702.5:n.191+8723_191+8724insTTTAT
ENST00000512169.1:n.327+4516_327+4517insTTTAT
ENST00000513205.5:c.234+11554_234+11555insTTTAT	ENSP00000421632.1:n.234+11554_234+11555insTTTAT
ENST00000515534.5:n.307-6952_307-6951insTTTAT
ENST00000612355.1:c.222+11554_222+11555insTTTAT	ENSP00000479729.1:n.222+11554_222+11555insTTTAT
ENST00000613098.4:c.-148+7531_-148+7532insTTTAT	ENSP00000481498.1:n.-148+7531_-148+7532insTTTAT
ENST00000617484.4:c.222+11554_222+11555insTTTAT	ENSP00000477921.1:n.222+11554_222+11555insTTTAT
NM_013261.3:c.234+11554_234+11555insTTTAT	NP_037393.1:n.234+11554_234+11555insTTTAT
XM_005248130.2:c.249+11554_249+11555insTTTAT	XP_005248187.1:n.249+11554_249+11555insTTTAT
XM_005248131.3:c.246+11554_246+11555insTTTAT	XP_005248188.1:n.246+11554_246+11555insTTTAT
XM_005248132.1:c.225+11554_225+11555insTTTAT	XP_005248189.1:n.225+11554_225+11555insTTTAT
XM_005248134.3:c.249+11554_249+11555insTTTAT	XP_005248191.1:n.249+11554_249+11555insTTTAT
XM_011513764.1:c.234+11554_234+11555insTTTAT	XP_011512066.1:n.234+11554_234+11555insTTTAT
XM_011513765.1:c.198+11554_198+11555insTTTAT	XP_011512067.1:n.198+11554_198+11555insTTTAT
XM_011513766.1:c.129+4516_129+4517insTTTAT	XP_011512068.1:n.129+4516_129+4517insTTTAT
XM_011513767.1:c.129+4516_129+4517insTTTAT	XP_011512069.1:n.129+4516_129+4517insTTTAT
XM_011513768.1:c.129+4516_129+4517insTTTAT	XP_011512070.1:n.129+4516_129+4517insTTTAT
XM_011513769.1:c.249+11554_249+11555insTTTAT	XP_011512071.1:n.249+11554_249+11555insTTTAT
XM_011513770.1:c.-148+7531_-148+7532insTTTAT	XP_011512072.1:n.-148+7531_-148+7532insTTTAT
XM_011513771.1:c.-148+8760_-148+8761insTTTAT	XP_011512073.1:n.-148+8760_-148+8761insTTTAT
NM_001330751.1:c.249+11554_249+11555insTTTAT	NP_001317680.1:n.249+11554_249+11555insTTTAT
NM_001330752.1:c.198+11554_198+11555insTTTAT	NP_001317681.1:n.198+11554_198+11555insTTTAT
NM_001330753.1:c.-148+7531_-148+7532insTTTAT	NP_001317682.1:n.-148+7531_-148+7532insTTTAT
NM_001354825.1:c.249+11554_249+11555insTTTAT	NP_001341754.1:n.249+11554_249+11555insTTTAT
NM_001354826.1:c.-148+11113_-148+11114insTTTAT	NP_001341755.1:n.-148+11113_-148+11114insTTTAT
NM_001354827.1:c.249+11554_249+11555insTTTAT	NP_001341756.1:n.249+11554_249+11555insTTTAT
NM_013261.4:c.234+11554_234+11555insTTTAT	NP_037393.1:n.234+11554_234+11555insTTTAT
NR_148981.1:n.700+11554_700+11555insTTTAT
NR_148982.1:n.803+11554_803+11555insTTTAT
NR_148983.1:n.956+4516_956+4517insTTTAT
NR_148984.1:n.354+11554_354+11555insTTTAT
NR_148985.1:n.868+11554_868+11555insTTTAT
NR_148986.1:n.700+11554_700+11555insTTTAT
NR_148987.1:n.700+11554_700+11555insTTTAT
XM_005248131.5:c.246+11554_246+11555insTTTAT	XP_005248188.1:n.246+11554_246+11555insTTTAT
XM_005248134.4:c.249+11554_249+11555insTTTAT	XP_005248191.1:n.249+11554_249+11555insTTTAT
XM_011513769.2:c.249+11554_249+11555insTTTAT	XP_011512071.1:n.249+11554_249+11555insTTTAT
XM_024453878.1:c.249+11554_249+11555insTTTAT	XP_024309646.1:n.249+11554_249+11555insTTTAT
NM_013261.5:c.234+11554_234+11555insTTTAT MANE Select	NP_037393.1:n.234+11554_234+11555insTTTAT
NM_001330751.2:c.249+11554_249+11555insTTTAT	NP_001317680.1:n.249+11554_249+11555insTTTAT
NM_001330752.2:c.198+11554_198+11555insTTTAT	NP_001317681.1:n.198+11554_198+11555insTTTAT
NM_001354825.2:c.249+11554_249+11555insTTTAT	NP_001341754.1:n.249+11554_249+11555insTTTAT
NM_001354826.2:c.-148+11113_-148+11114insTTTAT	NP_001341755.1:n.-148+11113_-148+11114insTTTAT
NM_001354827.2:c.249+11554_249+11555insTTTAT	NP_001341756.1:n.249+11554_249+11555insTTTAT
NR_148981.2:n.776+11554_776+11555insTTTAT
NR_148982.2:n.879+11554_879+11555insTTTAT
NR_148983.2:n.1032+4516_1032+4517insTTTAT
NR_148984.2:n.324+11554_324+11555insTTTAT
NR_148985.2:n.944+11554_944+11555insTTTAT
NR_148986.2:n.776+11554_776+11555insTTTAT
NR_148987.2:n.776+11554_776+11555insTTTAT
NM_001330753.2:c.-148+7531_-148+7532insTTTAT	NP_001317682.1:n.-148+7531_-148+7532insTTTAT