Canonical Allele Identifier: CA356524347
Gene: PPARGC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814080T>C , CM000666.2:g.23814080T>C GRCh38
NC_000004.11:g.23815703T>C , CM000666.1:g.23815703T>C GRCh37
NC_000004.10:g.23424801T>C NCBI36
NG_028250.1:g.80998A>G
NG_028250.2:g.663896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1403A>G MANE Select ENSP00000264867.2:p.His468Arg
ENST00000264867.6:c.1403A>G ENSP00000264867.2:p.His468Arg
ENST00000506055.5:c.*618A>G ENSP00000423075.1:n.*618A>G
ENST00000509702.5:n.1443A>G
ENST00000613098.4:c.1022A>G ENSP00000481498.1:p.His341Arg
NM_013261.3:c.1403A>G NP_037393.1:p.His468Arg
XM_005248130.2:c.1418A>G XP_005248187.1:p.His473Arg
XM_005248131.3:c.1415A>G XP_005248188.1:p.His472Arg
XM_005248132.1:c.1394A>G XP_005248189.1:p.His465Arg
XM_005248134.3:c.1418A>G XP_005248191.1:p.His473Arg
XM_011513764.1:c.1403A>G XP_011512066.1:p.His468Arg
XM_011513765.1:c.1367A>G XP_011512067.1:p.His456Arg
XM_011513766.1:c.1298A>G XP_011512068.1:p.His433Arg
XM_011513767.1:c.1298A>G XP_011512069.1:p.His433Arg
XM_011513768.1:c.1298A>G XP_011512070.1:p.His433Arg
XM_011513769.1:c.1418A>G XP_011512071.1:p.His473Arg
XM_011513770.1:c.1022A>G XP_011512072.1:p.His341Arg
XM_011513771.1:c.1022A>G XP_011512073.1:p.His341Arg
NM_001330751.1:c.1418A>G NP_001317680.1:p.His473Arg
NM_001330752.1:c.1367A>G NP_001317681.1:p.His456Arg
NM_001330753.1:c.1022A>G NP_001317682.1:p.His341Arg
NM_001354825.1:c.1418A>G NP_001341754.1:p.His473Arg
NM_001354826.1:c.1022A>G NP_001341755.1:p.His341Arg
NM_001354827.1:c.1418A>G NP_001341756.1:p.His473Arg
NM_013261.4:c.1403A>G NP_037393.1:p.His468Arg
NR_148981.1:n.1930A>G
NR_148982.1:n.2003A>G
NR_148983.1:n.2156A>G
NR_148984.1:n.1554A>G
NR_148985.1:n.2068A>G
NR_148986.1:n.2073A>G
NR_148987.1:n.2155A>G
XM_005248131.5:c.1415A>G XP_005248188.1:p.His472Arg
XM_005248134.4:c.1418A>G XP_005248191.1:p.His473Arg
XM_011513769.2:c.1418A>G XP_011512071.1:p.His473Arg
XM_024453878.1:c.1418A>G XP_024309646.1:p.His473Arg
NM_013261.5:c.1403A>G MANE Select NP_037393.1:p.His468Arg
NM_001330751.2:c.1418A>G NP_001317680.1:p.His473Arg
NM_001330752.2:c.1367A>G NP_001317681.1:p.His456Arg
NM_001354825.2:c.1418A>G NP_001341754.1:p.His473Arg
NM_001354826.2:c.1022A>G NP_001341755.1:p.His341Arg
NM_001354827.2:c.1418A>G NP_001341756.1:p.His473Arg
NR_148981.2:n.2006A>G
NR_148982.2:n.2079A>G
NR_148983.2:n.2232A>G
NR_148984.2:n.1524A>G
NR_148985.2:n.2144A>G
NR_148986.2:n.2149A>G
NR_148987.2:n.2231A>G
NM_001330753.2:c.1022A>G NP_001317682.1:p.His341Arg