Canonical Allele Identifier: CA1444639648
Gene: PPARGC1A HGNC NCBI

Linked Data

dbSNP Id: rs1560487726

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23873196_23873197insAAA , CM000666.2:g.23873196_23873197insAAA GRCh38
NC_000004.11:g.23874819_23874820insAAA , CM000666.1:g.23874819_23874820insAAA GRCh37
NC_000004.10:g.23483917_23483918insAAA NCBI36
NG_028250.1:g.21881_21882insTTT
NG_028250.2:g.604779_604780insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.234+11555_234+11556insTTT MANE Select ENSP00000264867.2:n.234+11555_234+11556insTTT
ENST00000264867.6:c.234+11555_234+11556insTTT ENSP00000264867.2:n.234+11555_234+11556insTTT
ENST00000506055.5:c.234+11555_234+11556insTTT ENSP00000423075.1:n.234+11555_234+11556insTTT
ENST00000507342.5:n.314+11555_314+11556insTTT
ENST00000508380.1:n.154+8761_154+8762insTTT
ENST00000509642.5:n.327+4517_327+4518insTTT
ENST00000509702.5:n.191+8724_191+8725insTTT
ENST00000512169.1:n.327+4517_327+4518insTTT
ENST00000513205.5:c.234+11555_234+11556insTTT ENSP00000421632.1:n.234+11555_234+11556insTTT
ENST00000515534.5:n.307-6951_307-6950insTTT
ENST00000612355.1:c.222+11555_222+11556insTTT ENSP00000479729.1:n.222+11555_222+11556insTTT
ENST00000613098.4:c.-148+7532_-148+7533insTTT ENSP00000481498.1:n.-148+7532_-148+7533insTTT
ENST00000617484.4:c.222+11555_222+11556insTTT ENSP00000477921.1:n.222+11555_222+11556insTTT
NM_013261.3:c.234+11555_234+11556insTTT NP_037393.1:n.234+11555_234+11556insTTT
XM_005248130.2:c.249+11555_249+11556insTTT XP_005248187.1:n.249+11555_249+11556insTTT
XM_005248131.3:c.246+11555_246+11556insTTT XP_005248188.1:n.246+11555_246+11556insTTT
XM_005248132.1:c.225+11555_225+11556insTTT XP_005248189.1:n.225+11555_225+11556insTTT
XM_005248134.3:c.249+11555_249+11556insTTT XP_005248191.1:n.249+11555_249+11556insTTT
XM_011513764.1:c.234+11555_234+11556insTTT XP_011512066.1:n.234+11555_234+11556insTTT
XM_011513765.1:c.198+11555_198+11556insTTT XP_011512067.1:n.198+11555_198+11556insTTT
XM_011513766.1:c.129+4517_129+4518insTTT XP_011512068.1:n.129+4517_129+4518insTTT
XM_011513767.1:c.129+4517_129+4518insTTT XP_011512069.1:n.129+4517_129+4518insTTT
XM_011513768.1:c.129+4517_129+4518insTTT XP_011512070.1:n.129+4517_129+4518insTTT
XM_011513769.1:c.249+11555_249+11556insTTT XP_011512071.1:n.249+11555_249+11556insTTT
XM_011513770.1:c.-148+7532_-148+7533insTTT XP_011512072.1:n.-148+7532_-148+7533insTTT
XM_011513771.1:c.-148+8761_-148+8762insTTT XP_011512073.1:n.-148+8761_-148+8762insTTT
NM_001330751.1:c.249+11555_249+11556insTTT NP_001317680.1:n.249+11555_249+11556insTTT
NM_001330752.1:c.198+11555_198+11556insTTT NP_001317681.1:n.198+11555_198+11556insTTT
NM_001330753.1:c.-148+7532_-148+7533insTTT NP_001317682.1:n.-148+7532_-148+7533insTTT
NM_001354825.1:c.249+11555_249+11556insTTT NP_001341754.1:n.249+11555_249+11556insTTT
NM_001354826.1:c.-148+11114_-148+11115insTTT NP_001341755.1:n.-148+11114_-148+11115insTTT
NM_001354827.1:c.249+11555_249+11556insTTT NP_001341756.1:n.249+11555_249+11556insTTT
NM_013261.4:c.234+11555_234+11556insTTT NP_037393.1:n.234+11555_234+11556insTTT
NR_148981.1:n.700+11555_700+11556insTTT
NR_148982.1:n.803+11555_803+11556insTTT
NR_148983.1:n.956+4517_956+4518insTTT
NR_148984.1:n.354+11555_354+11556insTTT
NR_148985.1:n.868+11555_868+11556insTTT
NR_148986.1:n.700+11555_700+11556insTTT
NR_148987.1:n.700+11555_700+11556insTTT
XM_005248131.5:c.246+11555_246+11556insTTT XP_005248188.1:n.246+11555_246+11556insTTT
XM_005248134.4:c.249+11555_249+11556insTTT XP_005248191.1:n.249+11555_249+11556insTTT
XM_011513769.2:c.249+11555_249+11556insTTT XP_011512071.1:n.249+11555_249+11556insTTT
XM_024453878.1:c.249+11555_249+11556insTTT XP_024309646.1:n.249+11555_249+11556insTTT
NM_013261.5:c.234+11555_234+11556insTTT MANE Select NP_037393.1:n.234+11555_234+11556insTTT
NM_001330751.2:c.249+11555_249+11556insTTT NP_001317680.1:n.249+11555_249+11556insTTT
NM_001330752.2:c.198+11555_198+11556insTTT NP_001317681.1:n.198+11555_198+11556insTTT
NM_001354825.2:c.249+11555_249+11556insTTT NP_001341754.1:n.249+11555_249+11556insTTT
NM_001354826.2:c.-148+11114_-148+11115insTTT NP_001341755.1:n.-148+11114_-148+11115insTTT
NM_001354827.2:c.249+11555_249+11556insTTT NP_001341756.1:n.249+11555_249+11556insTTT
NR_148981.2:n.776+11555_776+11556insTTT
NR_148982.2:n.879+11555_879+11556insTTT
NR_148983.2:n.1032+4517_1032+4518insTTT
NR_148984.2:n.324+11555_324+11556insTTT
NR_148985.2:n.944+11555_944+11556insTTT
NR_148986.2:n.776+11555_776+11556insTTT
NR_148987.2:n.776+11555_776+11556insTTT
NM_001330753.2:c.-148+7532_-148+7533insTTT NP_001317682.1:n.-148+7532_-148+7533insTTT