Canonical Allele Identifier: CA1444639715
Gene: PPARGC1A HGNC NCBI

Linked Data

dbSNP Id: rs1161704210

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23873207_23873227del , CM000666.2:g.23873207_23873227del GRCh38
NC_000004.11:g.23874830_23874850del , CM000666.1:g.23874830_23874850del GRCh37
NC_000004.10:g.23483928_23483948del NCBI36
NG_028250.1:g.21860_21880del
NG_028250.2:g.604758_604778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.234+11534_234+11554del MANE Select ENSP00000264867.2:n.234+11534_234+11554del
ENST00000264867.6:c.234+11534_234+11554del ENSP00000264867.2:n.234+11534_234+11554del
ENST00000506055.5:c.234+11534_234+11554del ENSP00000423075.1:n.234+11534_234+11554del
ENST00000507342.5:n.314+11534_314+11554del
ENST00000508380.1:n.154+8740_154+8760del
ENST00000509642.5:n.327+4496_327+4516del
ENST00000509702.5:n.191+8703_191+8723del
ENST00000512169.1:n.327+4496_327+4516del
ENST00000513205.5:c.234+11534_234+11554del ENSP00000421632.1:n.234+11534_234+11554del
ENST00000515534.5:n.307-6972_307-6952del
ENST00000612355.1:c.222+11534_222+11554del ENSP00000479729.1:n.222+11534_222+11554del
ENST00000613098.4:c.-148+7511_-148+7531del ENSP00000481498.1:n.-148+7511_-148+7531del
ENST00000617484.4:c.222+11534_222+11554del ENSP00000477921.1:n.222+11534_222+11554del
NM_013261.3:c.234+11534_234+11554del NP_037393.1:n.234+11534_234+11554del
XM_005248130.2:c.249+11534_249+11554del XP_005248187.1:n.249+11534_249+11554del
XM_005248131.3:c.246+11534_246+11554del XP_005248188.1:n.246+11534_246+11554del
XM_005248132.1:c.225+11534_225+11554del XP_005248189.1:n.225+11534_225+11554del
XM_005248134.3:c.249+11534_249+11554del XP_005248191.1:n.249+11534_249+11554del
XM_011513764.1:c.234+11534_234+11554del XP_011512066.1:n.234+11534_234+11554del
XM_011513765.1:c.198+11534_198+11554del XP_011512067.1:n.198+11534_198+11554del
XM_011513766.1:c.129+4496_129+4516del XP_011512068.1:n.129+4496_129+4516del
XM_011513767.1:c.129+4496_129+4516del XP_011512069.1:n.129+4496_129+4516del
XM_011513768.1:c.129+4496_129+4516del XP_011512070.1:n.129+4496_129+4516del
XM_011513769.1:c.249+11534_249+11554del XP_011512071.1:n.249+11534_249+11554del
XM_011513770.1:c.-148+7511_-148+7531del XP_011512072.1:n.-148+7511_-148+7531del
XM_011513771.1:c.-148+8740_-148+8760del XP_011512073.1:n.-148+8740_-148+8760del
NM_001330751.1:c.249+11534_249+11554del NP_001317680.1:n.249+11534_249+11554del
NM_001330752.1:c.198+11534_198+11554del NP_001317681.1:n.198+11534_198+11554del
NM_001330753.1:c.-148+7511_-148+7531del NP_001317682.1:n.-148+7511_-148+7531del
NM_001354825.1:c.249+11534_249+11554del NP_001341754.1:n.249+11534_249+11554del
NM_001354826.1:c.-148+11093_-148+11113del NP_001341755.1:n.-148+11093_-148+11113del
NM_001354827.1:c.249+11534_249+11554del NP_001341756.1:n.249+11534_249+11554del
NM_013261.4:c.234+11534_234+11554del NP_037393.1:n.234+11534_234+11554del
NR_148981.1:n.700+11534_700+11554del
NR_148982.1:n.803+11534_803+11554del
NR_148983.1:n.956+4496_956+4516del
NR_148984.1:n.354+11534_354+11554del
NR_148985.1:n.868+11534_868+11554del
NR_148986.1:n.700+11534_700+11554del
NR_148987.1:n.700+11534_700+11554del
XM_005248131.5:c.246+11534_246+11554del XP_005248188.1:n.246+11534_246+11554del
XM_005248134.4:c.249+11534_249+11554del XP_005248191.1:n.249+11534_249+11554del
XM_011513769.2:c.249+11534_249+11554del XP_011512071.1:n.249+11534_249+11554del
XM_024453878.1:c.249+11534_249+11554del XP_024309646.1:n.249+11534_249+11554del
NM_013261.5:c.234+11534_234+11554del MANE Select NP_037393.1:n.234+11534_234+11554del
NM_001330751.2:c.249+11534_249+11554del NP_001317680.1:n.249+11534_249+11554del
NM_001330752.2:c.198+11534_198+11554del NP_001317681.1:n.198+11534_198+11554del
NM_001354825.2:c.249+11534_249+11554del NP_001341754.1:n.249+11534_249+11554del
NM_001354826.2:c.-148+11093_-148+11113del NP_001341755.1:n.-148+11093_-148+11113del
NM_001354827.2:c.249+11534_249+11554del NP_001341756.1:n.249+11534_249+11554del
NR_148981.2:n.776+11534_776+11554del
NR_148982.2:n.879+11534_879+11554del
NR_148983.2:n.1032+4496_1032+4516del
NR_148984.2:n.324+11534_324+11554del
NR_148985.2:n.944+11534_944+11554del
NR_148986.2:n.776+11534_776+11554del
NR_148987.2:n.776+11534_776+11554del
NM_001330753.2:c.-148+7511_-148+7531del NP_001317682.1:n.-148+7511_-148+7531del