Canonical Allele Identifier: CA2875287

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs573162716
• ExAC: 4:23815892 T / C
• gnomAD v2: 4-23815892-T-C
• gnomAD v3: 4-23814269-T-C
• gnomAD v4: 4-23814269-T-C
• MyVariant Identifiers: chr4:g.23815892T>C (hg19) ; chr4:g.23814269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814269T>C , CM000666.2:g.23814269T>C	GRCh38
NC_000004.11:g.23815892T>C , CM000666.1:g.23815892T>C	GRCh37
NC_000004.10:g.23424990T>C	NCBI36
NG_028250.1:g.80809A>G
NG_028250.2:g.663707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1214A>G MANE Select	ENSP00000264867.2:p.Gln405Arg
ENST00000264867.6:c.1214A>G	ENSP00000264867.2:p.Gln405Arg
ENST00000506055.5:c.*429A>G	ENSP00000423075.1:n.*429A>G
ENST00000509702.5:n.1254A>G
ENST00000613098.4:c.833A>G	ENSP00000481498.1:p.Gln278Arg
NM_013261.3:c.1214A>G	NP_037393.1:p.Gln405Arg
XM_005248130.2:c.1229A>G	XP_005248187.1:p.Gln410Arg
XM_005248131.3:c.1226A>G	XP_005248188.1:p.Gln409Arg
XM_005248132.1:c.1205A>G	XP_005248189.1:p.Gln402Arg
XM_005248134.3:c.1229A>G	XP_005248191.1:p.Gln410Arg
XM_011513764.1:c.1214A>G	XP_011512066.1:p.Gln405Arg
XM_011513765.1:c.1178A>G	XP_011512067.1:p.Gln393Arg
XM_011513766.1:c.1109A>G	XP_011512068.1:p.Gln370Arg
XM_011513767.1:c.1109A>G	XP_011512069.1:p.Gln370Arg
XM_011513768.1:c.1109A>G	XP_011512070.1:p.Gln370Arg
XM_011513769.1:c.1229A>G	XP_011512071.1:p.Gln410Arg
XM_011513770.1:c.833A>G	XP_011512072.1:p.Gln278Arg
XM_011513771.1:c.833A>G	XP_011512073.1:p.Gln278Arg
NM_001330751.1:c.1229A>G	NP_001317680.1:p.Gln410Arg
NM_001330752.1:c.1178A>G	NP_001317681.1:p.Gln393Arg
NM_001330753.1:c.833A>G	NP_001317682.1:p.Gln278Arg
NM_001354825.1:c.1229A>G	NP_001341754.1:p.Gln410Arg
NM_001354826.1:c.833A>G	NP_001341755.1:p.Gln278Arg
NM_001354827.1:c.1229A>G	NP_001341756.1:p.Gln410Arg
NM_013261.4:c.1214A>G	NP_037393.1:p.Gln405Arg
NR_148981.1:n.1741A>G
NR_148982.1:n.1814A>G
NR_148983.1:n.1967A>G
NR_148984.1:n.1365A>G
NR_148985.1:n.1879A>G
NR_148986.1:n.1884A>G
NR_148987.1:n.1966A>G
XM_005248131.5:c.1226A>G	XP_005248188.1:p.Gln409Arg
XM_005248134.4:c.1229A>G	XP_005248191.1:p.Gln410Arg
XM_011513769.2:c.1229A>G	XP_011512071.1:p.Gln410Arg
XM_024453878.1:c.1229A>G	XP_024309646.1:p.Gln410Arg
NM_013261.5:c.1214A>G MANE Select	NP_037393.1:p.Gln405Arg
NM_001330751.2:c.1229A>G	NP_001317680.1:p.Gln410Arg
NM_001330752.2:c.1178A>G	NP_001317681.1:p.Gln393Arg
NM_001354825.2:c.1229A>G	NP_001341754.1:p.Gln410Arg
NM_001354826.2:c.833A>G	NP_001341755.1:p.Gln278Arg
NM_001354827.2:c.1229A>G	NP_001341756.1:p.Gln410Arg
NR_148981.2:n.1817A>G
NR_148982.2:n.1890A>G
NR_148983.2:n.2043A>G
NR_148984.2:n.1335A>G
NR_148985.2:n.1955A>G
NR_148986.2:n.1960A>G
NR_148987.2:n.2042A>G
NM_001330753.2:c.833A>G	NP_001317682.1:p.Gln278Arg