Canonical Allele Identifier: CA1060222142

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873232-A-AAC
• gnomAD v4: 4-23873232-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873233_23873234insCA , CM000666.2:g.23873233_23873234insCA	GRCh38
NC_000004.11:g.23874856_23874857insCA , CM000666.1:g.23874856_23874857insCA	GRCh37
NC_000004.10:g.23483954_23483955insCA	NCBI36
NG_028250.1:g.21845_21846insGT
NG_028250.2:g.604743_604744insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11519_234+11520insGT MANE Select	ENSP00000264867.2:n.234+11519_234+11520insGT
ENST00000264867.6:c.234+11519_234+11520insGT	ENSP00000264867.2:n.234+11519_234+11520insGT
ENST00000506055.5:c.234+11519_234+11520insGT	ENSP00000423075.1:n.234+11519_234+11520insGT
ENST00000507342.5:n.314+11519_314+11520insGT
ENST00000508380.1:n.154+8725_154+8726insGT
ENST00000509642.5:n.327+4481_327+4482insGT
ENST00000509702.5:n.191+8688_191+8689insGT
ENST00000512169.1:n.327+4481_327+4482insGT
ENST00000513205.5:c.234+11519_234+11520insGT	ENSP00000421632.1:n.234+11519_234+11520insGT
ENST00000515534.5:n.307-6987_307-6986insGT
ENST00000612355.1:c.222+11519_222+11520insGT	ENSP00000479729.1:n.222+11519_222+11520insGT
ENST00000613098.4:c.-148+7496_-148+7497insGT	ENSP00000481498.1:n.-148+7496_-148+7497insGT
ENST00000617484.4:c.222+11519_222+11520insGT	ENSP00000477921.1:n.222+11519_222+11520insGT
NM_013261.3:c.234+11519_234+11520insGT	NP_037393.1:n.234+11519_234+11520insGT
XM_005248130.2:c.249+11519_249+11520insGT	XP_005248187.1:n.249+11519_249+11520insGT
XM_005248131.3:c.246+11519_246+11520insGT	XP_005248188.1:n.246+11519_246+11520insGT
XM_005248132.1:c.225+11519_225+11520insGT	XP_005248189.1:n.225+11519_225+11520insGT
XM_005248134.3:c.249+11519_249+11520insGT	XP_005248191.1:n.249+11519_249+11520insGT
XM_011513764.1:c.234+11519_234+11520insGT	XP_011512066.1:n.234+11519_234+11520insGT
XM_011513765.1:c.198+11519_198+11520insGT	XP_011512067.1:n.198+11519_198+11520insGT
XM_011513766.1:c.129+4481_129+4482insGT	XP_011512068.1:n.129+4481_129+4482insGT
XM_011513767.1:c.129+4481_129+4482insGT	XP_011512069.1:n.129+4481_129+4482insGT
XM_011513768.1:c.129+4481_129+4482insGT	XP_011512070.1:n.129+4481_129+4482insGT
XM_011513769.1:c.249+11519_249+11520insGT	XP_011512071.1:n.249+11519_249+11520insGT
XM_011513770.1:c.-148+7496_-148+7497insGT	XP_011512072.1:n.-148+7496_-148+7497insGT
XM_011513771.1:c.-148+8725_-148+8726insGT	XP_011512073.1:n.-148+8725_-148+8726insGT
NM_001330751.1:c.249+11519_249+11520insGT	NP_001317680.1:n.249+11519_249+11520insGT
NM_001330752.1:c.198+11519_198+11520insGT	NP_001317681.1:n.198+11519_198+11520insGT
NM_001330753.1:c.-148+7496_-148+7497insGT	NP_001317682.1:n.-148+7496_-148+7497insGT
NM_001354825.1:c.249+11519_249+11520insGT	NP_001341754.1:n.249+11519_249+11520insGT
NM_001354826.1:c.-148+11078_-148+11079insGT	NP_001341755.1:n.-148+11078_-148+11079insGT
NM_001354827.1:c.249+11519_249+11520insGT	NP_001341756.1:n.249+11519_249+11520insGT
NM_013261.4:c.234+11519_234+11520insGT	NP_037393.1:n.234+11519_234+11520insGT
NR_148981.1:n.700+11519_700+11520insGT
NR_148982.1:n.803+11519_803+11520insGT
NR_148983.1:n.956+4481_956+4482insGT
NR_148984.1:n.354+11519_354+11520insGT
NR_148985.1:n.868+11519_868+11520insGT
NR_148986.1:n.700+11519_700+11520insGT
NR_148987.1:n.700+11519_700+11520insGT
XM_005248131.5:c.246+11519_246+11520insGT	XP_005248188.1:n.246+11519_246+11520insGT
XM_005248134.4:c.249+11519_249+11520insGT	XP_005248191.1:n.249+11519_249+11520insGT
XM_011513769.2:c.249+11519_249+11520insGT	XP_011512071.1:n.249+11519_249+11520insGT
XM_024453878.1:c.249+11519_249+11520insGT	XP_024309646.1:n.249+11519_249+11520insGT
NM_013261.5:c.234+11519_234+11520insGT MANE Select	NP_037393.1:n.234+11519_234+11520insGT
NM_001330751.2:c.249+11519_249+11520insGT	NP_001317680.1:n.249+11519_249+11520insGT
NM_001330752.2:c.198+11519_198+11520insGT	NP_001317681.1:n.198+11519_198+11520insGT
NM_001354825.2:c.249+11519_249+11520insGT	NP_001341754.1:n.249+11519_249+11520insGT
NM_001354826.2:c.-148+11078_-148+11079insGT	NP_001341755.1:n.-148+11078_-148+11079insGT
NM_001354827.2:c.249+11519_249+11520insGT	NP_001341756.1:n.249+11519_249+11520insGT
NR_148981.2:n.776+11519_776+11520insGT
NR_148982.2:n.879+11519_879+11520insGT
NR_148983.2:n.1032+4481_1032+4482insGT
NR_148984.2:n.324+11519_324+11520insGT
NR_148985.2:n.944+11519_944+11520insGT
NR_148986.2:n.776+11519_776+11520insGT
NR_148987.2:n.776+11519_776+11520insGT
NM_001330753.2:c.-148+7496_-148+7497insGT	NP_001317682.1:n.-148+7496_-148+7497insGT