Canonical Allele Identifier: CA356524837

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814258-G-T
• COSMIC: COSM5026126
• MyVariant Identifiers: chr4:g.23815881G>T (hg19) ; chr4:g.23814258G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814258G>T , CM000666.2:g.23814258G>T	GRCh38
NC_000004.11:g.23815881G>T , CM000666.1:g.23815881G>T	GRCh37
NC_000004.10:g.23424979G>T	NCBI36
NG_028250.1:g.80820C>A
NG_028250.2:g.663718C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1225C>A MANE Select	ENSP00000264867.2:p.Gln409Lys
ENST00000264867.6:c.1225C>A	ENSP00000264867.2:p.Gln409Lys
ENST00000506055.5:c.*440C>A	ENSP00000423075.1:n.*440C>A
ENST00000509702.5:n.1265C>A
ENST00000613098.4:c.844C>A	ENSP00000481498.1:p.Gln282Lys
NM_013261.3:c.1225C>A	NP_037393.1:p.Gln409Lys
XM_005248130.2:c.1240C>A	XP_005248187.1:p.Gln414Lys
XM_005248131.3:c.1237C>A	XP_005248188.1:p.Gln413Lys
XM_005248132.1:c.1216C>A	XP_005248189.1:p.Gln406Lys
XM_005248134.3:c.1240C>A	XP_005248191.1:p.Gln414Lys
XM_011513764.1:c.1225C>A	XP_011512066.1:p.Gln409Lys
XM_011513765.1:c.1189C>A	XP_011512067.1:p.Gln397Lys
XM_011513766.1:c.1120C>A	XP_011512068.1:p.Gln374Lys
XM_011513767.1:c.1120C>A	XP_011512069.1:p.Gln374Lys
XM_011513768.1:c.1120C>A	XP_011512070.1:p.Gln374Lys
XM_011513769.1:c.1240C>A	XP_011512071.1:p.Gln414Lys
XM_011513770.1:c.844C>A	XP_011512072.1:p.Gln282Lys
XM_011513771.1:c.844C>A	XP_011512073.1:p.Gln282Lys
NM_001330751.1:c.1240C>A	NP_001317680.1:p.Gln414Lys
NM_001330752.1:c.1189C>A	NP_001317681.1:p.Gln397Lys
NM_001330753.1:c.844C>A	NP_001317682.1:p.Gln282Lys
NM_001354825.1:c.1240C>A	NP_001341754.1:p.Gln414Lys
NM_001354826.1:c.844C>A	NP_001341755.1:p.Gln282Lys
NM_001354827.1:c.1240C>A	NP_001341756.1:p.Gln414Lys
NM_013261.4:c.1225C>A	NP_037393.1:p.Gln409Lys
NR_148981.1:n.1752C>A
NR_148982.1:n.1825C>A
NR_148983.1:n.1978C>A
NR_148984.1:n.1376C>A
NR_148985.1:n.1890C>A
NR_148986.1:n.1895C>A
NR_148987.1:n.1977C>A
XM_005248131.5:c.1237C>A	XP_005248188.1:p.Gln413Lys
XM_005248134.4:c.1240C>A	XP_005248191.1:p.Gln414Lys
XM_011513769.2:c.1240C>A	XP_011512071.1:p.Gln414Lys
XM_024453878.1:c.1240C>A	XP_024309646.1:p.Gln414Lys
NM_013261.5:c.1225C>A MANE Select	NP_037393.1:p.Gln409Lys
NM_001330751.2:c.1240C>A	NP_001317680.1:p.Gln414Lys
NM_001330752.2:c.1189C>A	NP_001317681.1:p.Gln397Lys
NM_001354825.2:c.1240C>A	NP_001341754.1:p.Gln414Lys
NM_001354826.2:c.844C>A	NP_001341755.1:p.Gln282Lys
NM_001354827.2:c.1240C>A	NP_001341756.1:p.Gln414Lys
NR_148981.2:n.1828C>A
NR_148982.2:n.1901C>A
NR_148983.2:n.2054C>A
NR_148984.2:n.1346C>A
NR_148985.2:n.1966C>A
NR_148986.2:n.1971C>A
NR_148987.2:n.2053C>A
NM_001330753.2:c.844C>A	NP_001317682.1:p.Gln282Lys