Canonical Allele Identifier: CA94197867
Gene: PPARGC1A HGNC NCBI

Linked Data

dbSNP Id: rs539164832
gnomAD v3: 4-23824016-G-C
gnomAD v4: 4-23824016-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23824016G>C , CM000666.2:g.23824016G>C GRCh38
NC_000004.11:g.23825639G>C , CM000666.1:g.23825639G>C GRCh37
NC_000004.10:g.23434737G>C NCBI36
NG_028250.1:g.71062C>G
NG_028250.2:g.653960C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.877+264C>G MANE Select ENSP00000264867.2:n.877+264C>G
ENST00000264867.6:c.877+264C>G ENSP00000264867.2:n.877+264C>G
ENST00000506055.5:c.*92+264C>G ENSP00000423075.1:n.*92+264C>G
ENST00000509642.5:n.970+264C>G
ENST00000509702.5:n.917+264C>G
ENST00000513205.5:c.877+264C>G ENSP00000421632.1:n.877+264C>G
ENST00000613098.4:c.496+264C>G ENSP00000481498.1:n.496+264C>G
ENST00000617484.4:c.865+264C>G ENSP00000477921.1:n.865+264C>G
NM_013261.3:c.877+264C>G NP_037393.1:n.877+264C>G
XM_005248130.2:c.892+264C>G XP_005248187.1:n.892+264C>G
XM_005248131.3:c.889+264C>G XP_005248188.1:n.889+264C>G
XM_005248132.1:c.868+264C>G XP_005248189.1:n.868+264C>G
XM_005248134.3:c.892+264C>G XP_005248191.1:n.892+264C>G
XM_011513764.1:c.877+264C>G XP_011512066.1:n.877+264C>G
XM_011513765.1:c.841+264C>G XP_011512067.1:n.841+264C>G
XM_011513766.1:c.772+264C>G XP_011512068.1:n.772+264C>G
XM_011513767.1:c.772+264C>G XP_011512069.1:n.772+264C>G
XM_011513768.1:c.772+264C>G XP_011512070.1:n.772+264C>G
XM_011513769.1:c.892+264C>G XP_011512071.1:n.892+264C>G
XM_011513770.1:c.496+264C>G XP_011512072.1:n.496+264C>G
XM_011513771.1:c.496+264C>G XP_011512073.1:n.496+264C>G
NM_001330751.1:c.892+264C>G NP_001317680.1:n.892+264C>G
NM_001330752.1:c.841+264C>G NP_001317681.1:n.841+264C>G
NM_001330753.1:c.496+264C>G NP_001317682.1:n.496+264C>G
NM_001354825.1:c.892+264C>G NP_001341754.1:n.892+264C>G
NM_001354826.1:c.496+264C>G NP_001341755.1:n.496+264C>G
NM_001354827.1:c.892+264C>G NP_001341756.1:n.892+264C>G
NM_013261.4:c.877+264C>G NP_037393.1:n.877+264C>G
NR_148981.1:n.1404+264C>G
NR_148982.1:n.1477+264C>G
NR_148983.1:n.1630+264C>G
NR_148984.1:n.1028+264C>G
NR_148985.1:n.1542+264C>G
NR_148986.1:n.1343+264C>G
NR_148987.1:n.1425+264C>G
XM_005248131.5:c.889+264C>G XP_005248188.1:n.889+264C>G
XM_005248134.4:c.892+264C>G XP_005248191.1:n.892+264C>G
XM_011513769.2:c.892+264C>G XP_011512071.1:n.892+264C>G
XM_024453878.1:c.892+264C>G XP_024309646.1:n.892+264C>G
NM_013261.5:c.877+264C>G MANE Select NP_037393.1:n.877+264C>G
NM_001330751.2:c.892+264C>G NP_001317680.1:n.892+264C>G
NM_001330752.2:c.841+264C>G NP_001317681.1:n.841+264C>G
NM_001354825.2:c.892+264C>G NP_001341754.1:n.892+264C>G
NM_001354826.2:c.496+264C>G NP_001341755.1:n.496+264C>G
NM_001354827.2:c.892+264C>G NP_001341756.1:n.892+264C>G
NR_148981.2:n.1480+264C>G
NR_148982.2:n.1553+264C>G
NR_148983.2:n.1706+264C>G
NR_148984.2:n.998+264C>G
NR_148985.2:n.1618+264C>G
NR_148986.2:n.1419+264C>G
NR_148987.2:n.1501+264C>G
NM_001330753.2:c.496+264C>G NP_001317682.1:n.496+264C>G