Canonical Allele Identifier: CA1060221774

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1713876834
• gnomAD v3: 4-23873201-A-AAAAG
• gnomAD v4: 4-23873201-A-AAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873202_23873203insAAGA , CM000666.2:g.23873202_23873203insAAGA	GRCh38
NC_000004.11:g.23874825_23874826insAAGA , CM000666.1:g.23874825_23874826insAAGA	GRCh37
NC_000004.10:g.23483923_23483924insAAGA	NCBI36
NG_028250.1:g.21876_21877insCTTT
NG_028250.2:g.604774_604775insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11550_234+11551insCTTT MANE Select	ENSP00000264867.2:n.234+11550_234+11551insCTTT
ENST00000264867.6:c.234+11550_234+11551insCTTT	ENSP00000264867.2:n.234+11550_234+11551insCTTT
ENST00000506055.5:c.234+11550_234+11551insCTTT	ENSP00000423075.1:n.234+11550_234+11551insCTTT
ENST00000507342.5:n.314+11550_314+11551insCTTT
ENST00000508380.1:n.154+8756_154+8757insCTTT
ENST00000509642.5:n.327+4512_327+4513insCTTT
ENST00000509702.5:n.191+8719_191+8720insCTTT
ENST00000512169.1:n.327+4512_327+4513insCTTT
ENST00000513205.5:c.234+11550_234+11551insCTTT	ENSP00000421632.1:n.234+11550_234+11551insCTTT
ENST00000515534.5:n.307-6956_307-6955insCTTT
ENST00000612355.1:c.222+11550_222+11551insCTTT	ENSP00000479729.1:n.222+11550_222+11551insCTTT
ENST00000613098.4:c.-148+7527_-148+7528insCTTT	ENSP00000481498.1:n.-148+7527_-148+7528insCTTT
ENST00000617484.4:c.222+11550_222+11551insCTTT	ENSP00000477921.1:n.222+11550_222+11551insCTTT
NM_013261.3:c.234+11550_234+11551insCTTT	NP_037393.1:n.234+11550_234+11551insCTTT
XM_005248130.2:c.249+11550_249+11551insCTTT	XP_005248187.1:n.249+11550_249+11551insCTTT
XM_005248131.3:c.246+11550_246+11551insCTTT	XP_005248188.1:n.246+11550_246+11551insCTTT
XM_005248132.1:c.225+11550_225+11551insCTTT	XP_005248189.1:n.225+11550_225+11551insCTTT
XM_005248134.3:c.249+11550_249+11551insCTTT	XP_005248191.1:n.249+11550_249+11551insCTTT
XM_011513764.1:c.234+11550_234+11551insCTTT	XP_011512066.1:n.234+11550_234+11551insCTTT
XM_011513765.1:c.198+11550_198+11551insCTTT	XP_011512067.1:n.198+11550_198+11551insCTTT
XM_011513766.1:c.129+4512_129+4513insCTTT	XP_011512068.1:n.129+4512_129+4513insCTTT
XM_011513767.1:c.129+4512_129+4513insCTTT	XP_011512069.1:n.129+4512_129+4513insCTTT
XM_011513768.1:c.129+4512_129+4513insCTTT	XP_011512070.1:n.129+4512_129+4513insCTTT
XM_011513769.1:c.249+11550_249+11551insCTTT	XP_011512071.1:n.249+11550_249+11551insCTTT
XM_011513770.1:c.-148+7527_-148+7528insCTTT	XP_011512072.1:n.-148+7527_-148+7528insCTTT
XM_011513771.1:c.-148+8756_-148+8757insCTTT	XP_011512073.1:n.-148+8756_-148+8757insCTTT
NM_001330751.1:c.249+11550_249+11551insCTTT	NP_001317680.1:n.249+11550_249+11551insCTTT
NM_001330752.1:c.198+11550_198+11551insCTTT	NP_001317681.1:n.198+11550_198+11551insCTTT
NM_001330753.1:c.-148+7527_-148+7528insCTTT	NP_001317682.1:n.-148+7527_-148+7528insCTTT
NM_001354825.1:c.249+11550_249+11551insCTTT	NP_001341754.1:n.249+11550_249+11551insCTTT
NM_001354826.1:c.-148+11109_-148+11110insCTTT	NP_001341755.1:n.-148+11109_-148+11110insCTTT
NM_001354827.1:c.249+11550_249+11551insCTTT	NP_001341756.1:n.249+11550_249+11551insCTTT
NM_013261.4:c.234+11550_234+11551insCTTT	NP_037393.1:n.234+11550_234+11551insCTTT
NR_148981.1:n.700+11550_700+11551insCTTT
NR_148982.1:n.803+11550_803+11551insCTTT
NR_148983.1:n.956+4512_956+4513insCTTT
NR_148984.1:n.354+11550_354+11551insCTTT
NR_148985.1:n.868+11550_868+11551insCTTT
NR_148986.1:n.700+11550_700+11551insCTTT
NR_148987.1:n.700+11550_700+11551insCTTT
XM_005248131.5:c.246+11550_246+11551insCTTT	XP_005248188.1:n.246+11550_246+11551insCTTT
XM_005248134.4:c.249+11550_249+11551insCTTT	XP_005248191.1:n.249+11550_249+11551insCTTT
XM_011513769.2:c.249+11550_249+11551insCTTT	XP_011512071.1:n.249+11550_249+11551insCTTT
XM_024453878.1:c.249+11550_249+11551insCTTT	XP_024309646.1:n.249+11550_249+11551insCTTT
NM_013261.5:c.234+11550_234+11551insCTTT MANE Select	NP_037393.1:n.234+11550_234+11551insCTTT
NM_001330751.2:c.249+11550_249+11551insCTTT	NP_001317680.1:n.249+11550_249+11551insCTTT
NM_001330752.2:c.198+11550_198+11551insCTTT	NP_001317681.1:n.198+11550_198+11551insCTTT
NM_001354825.2:c.249+11550_249+11551insCTTT	NP_001341754.1:n.249+11550_249+11551insCTTT
NM_001354826.2:c.-148+11109_-148+11110insCTTT	NP_001341755.1:n.-148+11109_-148+11110insCTTT
NM_001354827.2:c.249+11550_249+11551insCTTT	NP_001341756.1:n.249+11550_249+11551insCTTT
NR_148981.2:n.776+11550_776+11551insCTTT
NR_148982.2:n.879+11550_879+11551insCTTT
NR_148983.2:n.1032+4512_1032+4513insCTTT
NR_148984.2:n.324+11550_324+11551insCTTT
NR_148985.2:n.944+11550_944+11551insCTTT
NR_148986.2:n.776+11550_776+11551insCTTT
NR_148987.2:n.776+11550_776+11551insCTTT
NM_001330753.2:c.-148+7527_-148+7528insCTTT	NP_001317682.1:n.-148+7527_-148+7528insCTTT