Canonical Allele Identifier: CA356524546

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814168-C-T
• MyVariant Identifiers: chr4:g.23815791C>T (hg19) ; chr4:g.23814168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814168C>T , CM000666.2:g.23814168C>T	GRCh38
NC_000004.11:g.23815791C>T , CM000666.1:g.23815791C>T	GRCh37
NC_000004.10:g.23424889C>T	NCBI36
NG_028250.1:g.80910G>A
NG_028250.2:g.663808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1315G>A MANE Select	ENSP00000264867.2:p.Glu439Lys
ENST00000264867.6:c.1315G>A	ENSP00000264867.2:p.Glu439Lys
ENST00000506055.5:c.*530G>A	ENSP00000423075.1:n.*530G>A
ENST00000509702.5:n.1355G>A
ENST00000613098.4:c.934G>A	ENSP00000481498.1:p.Glu312Lys
NM_013261.3:c.1315G>A	NP_037393.1:p.Glu439Lys
XM_005248130.2:c.1330G>A	XP_005248187.1:p.Glu444Lys
XM_005248131.3:c.1327G>A	XP_005248188.1:p.Glu443Lys
XM_005248132.1:c.1306G>A	XP_005248189.1:p.Glu436Lys
XM_005248134.3:c.1330G>A	XP_005248191.1:p.Glu444Lys
XM_011513764.1:c.1315G>A	XP_011512066.1:p.Glu439Lys
XM_011513765.1:c.1279G>A	XP_011512067.1:p.Glu427Lys
XM_011513766.1:c.1210G>A	XP_011512068.1:p.Glu404Lys
XM_011513767.1:c.1210G>A	XP_011512069.1:p.Glu404Lys
XM_011513768.1:c.1210G>A	XP_011512070.1:p.Glu404Lys
XM_011513769.1:c.1330G>A	XP_011512071.1:p.Glu444Lys
XM_011513770.1:c.934G>A	XP_011512072.1:p.Glu312Lys
XM_011513771.1:c.934G>A	XP_011512073.1:p.Glu312Lys
NM_001330751.1:c.1330G>A	NP_001317680.1:p.Glu444Lys
NM_001330752.1:c.1279G>A	NP_001317681.1:p.Glu427Lys
NM_001330753.1:c.934G>A	NP_001317682.1:p.Glu312Lys
NM_001354825.1:c.1330G>A	NP_001341754.1:p.Glu444Lys
NM_001354826.1:c.934G>A	NP_001341755.1:p.Glu312Lys
NM_001354827.1:c.1330G>A	NP_001341756.1:p.Glu444Lys
NM_013261.4:c.1315G>A	NP_037393.1:p.Glu439Lys
NR_148981.1:n.1842G>A
NR_148982.1:n.1915G>A
NR_148983.1:n.2068G>A
NR_148984.1:n.1466G>A
NR_148985.1:n.1980G>A
NR_148986.1:n.1985G>A
NR_148987.1:n.2067G>A
XM_005248131.5:c.1327G>A	XP_005248188.1:p.Glu443Lys
XM_005248134.4:c.1330G>A	XP_005248191.1:p.Glu444Lys
XM_011513769.2:c.1330G>A	XP_011512071.1:p.Glu444Lys
XM_024453878.1:c.1330G>A	XP_024309646.1:p.Glu444Lys
NM_013261.5:c.1315G>A MANE Select	NP_037393.1:p.Glu439Lys
NM_001330751.2:c.1330G>A	NP_001317680.1:p.Glu444Lys
NM_001330752.2:c.1279G>A	NP_001317681.1:p.Glu427Lys
NM_001354825.2:c.1330G>A	NP_001341754.1:p.Glu444Lys
NM_001354826.2:c.934G>A	NP_001341755.1:p.Glu312Lys
NM_001354827.2:c.1330G>A	NP_001341756.1:p.Glu444Lys
NR_148981.2:n.1918G>A
NR_148982.2:n.1991G>A
NR_148983.2:n.2144G>A
NR_148984.2:n.1436G>A
NR_148985.2:n.2056G>A
NR_148986.2:n.2061G>A
NR_148987.2:n.2143G>A
NM_001330753.2:c.934G>A	NP_001317682.1:p.Glu312Lys