Canonical Allele Identifier: CA2875240

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs374643892
• ExAC: 4:23815563 C / T
• gnomAD v2: 4-23815563-C-T
• gnomAD v3: 4-23813940-C-T
• gnomAD v4: 4-23813940-C-T
• COSMIC: COSM343660
• MyVariant Identifiers: chr4:g.23815563C>T (hg19) ; chr4:g.23813940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23813940C>T , CM000666.2:g.23813940C>T	GRCh38
NC_000004.11:g.23815563C>T , CM000666.1:g.23815563C>T	GRCh37
NC_000004.10:g.23424661C>T	NCBI36
NG_028250.1:g.81138G>A
NG_028250.2:g.664036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1543G>A MANE Select	ENSP00000264867.2:p.Glu515Lys
ENST00000264867.6:c.1543G>A	ENSP00000264867.2:p.Glu515Lys
ENST00000506055.5:c.*758G>A	ENSP00000423075.1:n.*758G>A
ENST00000509702.5:n.1583G>A
ENST00000613098.4:c.1162G>A	ENSP00000481498.1:p.Glu388Lys
NM_013261.3:c.1543G>A	NP_037393.1:p.Glu515Lys
XM_005248130.2:c.1558G>A	XP_005248187.1:p.Glu520Lys
XM_005248131.3:c.1555G>A	XP_005248188.1:p.Glu519Lys
XM_005248132.1:c.1534G>A	XP_005248189.1:p.Glu512Lys
XM_005248134.3:c.1558G>A	XP_005248191.1:p.Glu520Lys
XM_011513764.1:c.1543G>A	XP_011512066.1:p.Glu515Lys
XM_011513765.1:c.1507G>A	XP_011512067.1:p.Glu503Lys
XM_011513766.1:c.1438G>A	XP_011512068.1:p.Glu480Lys
XM_011513767.1:c.1438G>A	XP_011512069.1:p.Glu480Lys
XM_011513768.1:c.1438G>A	XP_011512070.1:p.Glu480Lys
XM_011513769.1:c.1558G>A	XP_011512071.1:p.Glu520Lys
XM_011513770.1:c.1162G>A	XP_011512072.1:p.Glu388Lys
XM_011513771.1:c.1162G>A	XP_011512073.1:p.Glu388Lys
NM_001330751.1:c.1558G>A	NP_001317680.1:p.Glu520Lys
NM_001330752.1:c.1507G>A	NP_001317681.1:p.Glu503Lys
NM_001330753.1:c.1162G>A	NP_001317682.1:p.Glu388Lys
NM_001354825.1:c.1558G>A	NP_001341754.1:p.Glu520Lys
NM_001354826.1:c.1162G>A	NP_001341755.1:p.Glu388Lys
NM_001354827.1:c.1558G>A	NP_001341756.1:p.Glu520Lys
NM_013261.4:c.1543G>A	NP_037393.1:p.Glu515Lys
NR_148981.1:n.2070G>A
NR_148982.1:n.2143G>A
NR_148983.1:n.2296G>A
NR_148984.1:n.1694G>A
NR_148985.1:n.2208G>A
NR_148986.1:n.2213G>A
NR_148987.1:n.2295G>A
XM_005248131.5:c.1555G>A	XP_005248188.1:p.Glu519Lys
XM_005248134.4:c.1558G>A	XP_005248191.1:p.Glu520Lys
XM_011513769.2:c.1558G>A	XP_011512071.1:p.Glu520Lys
XM_024453878.1:c.1558G>A	XP_024309646.1:p.Glu520Lys
NM_013261.5:c.1543G>A MANE Select	NP_037393.1:p.Glu515Lys
NM_001330751.2:c.1558G>A	NP_001317680.1:p.Glu520Lys
NM_001330752.2:c.1507G>A	NP_001317681.1:p.Glu503Lys
NM_001354825.2:c.1558G>A	NP_001341754.1:p.Glu520Lys
NM_001354826.2:c.1162G>A	NP_001341755.1:p.Glu388Lys
NM_001354827.2:c.1558G>A	NP_001341756.1:p.Glu520Lys
NR_148981.2:n.2146G>A
NR_148982.2:n.2219G>A
NR_148983.2:n.2372G>A
NR_148984.2:n.1664G>A
NR_148985.2:n.2284G>A
NR_148986.2:n.2289G>A
NR_148987.2:n.2371G>A
NM_001330753.2:c.1162G>A	NP_001317682.1:p.Glu388Lys