Canonical Allele Identifier: CA2875279

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs373408567
• ExAC: 4:23815812 A / G
• gnomAD v2: 4-23815812-A-G
• gnomAD v3: 4-23814189-A-G
• gnomAD v4: 4-23814189-A-G
• MyVariant Identifiers: chr4:g.23815812A>G (hg19) ; chr4:g.23814189A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814189A>G , CM000666.2:g.23814189A>G	GRCh38
NC_000004.11:g.23815812A>G , CM000666.1:g.23815812A>G	GRCh37
NC_000004.10:g.23424910A>G	NCBI36
NG_028250.1:g.80889T>C
NG_028250.2:g.663787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1294T>C MANE Select	ENSP00000264867.2:p.Cys432Arg
ENST00000264867.6:c.1294T>C	ENSP00000264867.2:p.Cys432Arg
ENST00000506055.5:c.*509T>C	ENSP00000423075.1:n.*509T>C
ENST00000509702.5:n.1334T>C
ENST00000613098.4:c.913T>C	ENSP00000481498.1:p.Cys305Arg
NM_013261.3:c.1294T>C	NP_037393.1:p.Cys432Arg
XM_005248130.2:c.1309T>C	XP_005248187.1:p.Cys437Arg
XM_005248131.3:c.1306T>C	XP_005248188.1:p.Cys436Arg
XM_005248132.1:c.1285T>C	XP_005248189.1:p.Cys429Arg
XM_005248134.3:c.1309T>C	XP_005248191.1:p.Cys437Arg
XM_011513764.1:c.1294T>C	XP_011512066.1:p.Cys432Arg
XM_011513765.1:c.1258T>C	XP_011512067.1:p.Cys420Arg
XM_011513766.1:c.1189T>C	XP_011512068.1:p.Cys397Arg
XM_011513767.1:c.1189T>C	XP_011512069.1:p.Cys397Arg
XM_011513768.1:c.1189T>C	XP_011512070.1:p.Cys397Arg
XM_011513769.1:c.1309T>C	XP_011512071.1:p.Cys437Arg
XM_011513770.1:c.913T>C	XP_011512072.1:p.Cys305Arg
XM_011513771.1:c.913T>C	XP_011512073.1:p.Cys305Arg
NM_001330751.1:c.1309T>C	NP_001317680.1:p.Cys437Arg
NM_001330752.1:c.1258T>C	NP_001317681.1:p.Cys420Arg
NM_001330753.1:c.913T>C	NP_001317682.1:p.Cys305Arg
NM_001354825.1:c.1309T>C	NP_001341754.1:p.Cys437Arg
NM_001354826.1:c.913T>C	NP_001341755.1:p.Cys305Arg
NM_001354827.1:c.1309T>C	NP_001341756.1:p.Cys437Arg
NM_013261.4:c.1294T>C	NP_037393.1:p.Cys432Arg
NR_148981.1:n.1821T>C
NR_148982.1:n.1894T>C
NR_148983.1:n.2047T>C
NR_148984.1:n.1445T>C
NR_148985.1:n.1959T>C
NR_148986.1:n.1964T>C
NR_148987.1:n.2046T>C
XM_005248131.5:c.1306T>C	XP_005248188.1:p.Cys436Arg
XM_005248134.4:c.1309T>C	XP_005248191.1:p.Cys437Arg
XM_011513769.2:c.1309T>C	XP_011512071.1:p.Cys437Arg
XM_024453878.1:c.1309T>C	XP_024309646.1:p.Cys437Arg
NM_013261.5:c.1294T>C MANE Select	NP_037393.1:p.Cys432Arg
NM_001330751.2:c.1309T>C	NP_001317680.1:p.Cys437Arg
NM_001330752.2:c.1258T>C	NP_001317681.1:p.Cys420Arg
NM_001354825.2:c.1309T>C	NP_001341754.1:p.Cys437Arg
NM_001354826.2:c.913T>C	NP_001341755.1:p.Cys305Arg
NM_001354827.2:c.1309T>C	NP_001341756.1:p.Cys437Arg
NR_148981.2:n.1897T>C
NR_148982.2:n.1970T>C
NR_148983.2:n.2123T>C
NR_148984.2:n.1415T>C
NR_148985.2:n.2035T>C
NR_148986.2:n.2040T>C
NR_148987.2:n.2122T>C
NM_001330753.2:c.913T>C	NP_001317682.1:p.Cys305Arg