Canonical Allele Identifier: CA93562370

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs980218887
• gnomAD v3: 4-23814231-C-G
• gnomAD v4: 4-23814231-C-G
• MyVariant Identifiers: chr4:g.23815854C>G (hg19) ; chr4:g.23814231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814231C>G , CM000666.2:g.23814231C>G	GRCh38
NC_000004.11:g.23815854C>G , CM000666.1:g.23815854C>G	GRCh37
NC_000004.10:g.23424952C>G	NCBI36
NG_028250.1:g.80847G>C
NG_028250.2:g.663745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1252G>C MANE Select	ENSP00000264867.2:p.Asp418His
ENST00000264867.6:c.1252G>C	ENSP00000264867.2:p.Asp418His
ENST00000506055.5:c.*467G>C	ENSP00000423075.1:n.*467G>C
ENST00000509702.5:n.1292G>C
ENST00000613098.4:c.871G>C	ENSP00000481498.1:p.Asp291His
NM_013261.3:c.1252G>C	NP_037393.1:p.Asp418His
XM_005248130.2:c.1267G>C	XP_005248187.1:p.Asp423His
XM_005248131.3:c.1264G>C	XP_005248188.1:p.Asp422His
XM_005248132.1:c.1243G>C	XP_005248189.1:p.Asp415His
XM_005248134.3:c.1267G>C	XP_005248191.1:p.Asp423His
XM_011513764.1:c.1252G>C	XP_011512066.1:p.Asp418His
XM_011513765.1:c.1216G>C	XP_011512067.1:p.Asp406His
XM_011513766.1:c.1147G>C	XP_011512068.1:p.Asp383His
XM_011513767.1:c.1147G>C	XP_011512069.1:p.Asp383His
XM_011513768.1:c.1147G>C	XP_011512070.1:p.Asp383His
XM_011513769.1:c.1267G>C	XP_011512071.1:p.Asp423His
XM_011513770.1:c.871G>C	XP_011512072.1:p.Asp291His
XM_011513771.1:c.871G>C	XP_011512073.1:p.Asp291His
NM_001330751.1:c.1267G>C	NP_001317680.1:p.Asp423His
NM_001330752.1:c.1216G>C	NP_001317681.1:p.Asp406His
NM_001330753.1:c.871G>C	NP_001317682.1:p.Asp291His
NM_001354825.1:c.1267G>C	NP_001341754.1:p.Asp423His
NM_001354826.1:c.871G>C	NP_001341755.1:p.Asp291His
NM_001354827.1:c.1267G>C	NP_001341756.1:p.Asp423His
NM_013261.4:c.1252G>C	NP_037393.1:p.Asp418His
NR_148981.1:n.1779G>C
NR_148982.1:n.1852G>C
NR_148983.1:n.2005G>C
NR_148984.1:n.1403G>C
NR_148985.1:n.1917G>C
NR_148986.1:n.1922G>C
NR_148987.1:n.2004G>C
XM_005248131.5:c.1264G>C	XP_005248188.1:p.Asp422His
XM_005248134.4:c.1267G>C	XP_005248191.1:p.Asp423His
XM_011513769.2:c.1267G>C	XP_011512071.1:p.Asp423His
XM_024453878.1:c.1267G>C	XP_024309646.1:p.Asp423His
NM_013261.5:c.1252G>C MANE Select	NP_037393.1:p.Asp418His
NM_001330751.2:c.1267G>C	NP_001317680.1:p.Asp423His
NM_001330752.2:c.1216G>C	NP_001317681.1:p.Asp406His
NM_001354825.2:c.1267G>C	NP_001341754.1:p.Asp423His
NM_001354826.2:c.871G>C	NP_001341755.1:p.Asp291His
NM_001354827.2:c.1267G>C	NP_001341756.1:p.Asp423His
NR_148981.2:n.1855G>C
NR_148982.2:n.1928G>C
NR_148983.2:n.2081G>C
NR_148984.2:n.1373G>C
NR_148985.2:n.1993G>C
NR_148986.2:n.1998G>C
NR_148987.2:n.2080G>C
NM_001330753.2:c.871G>C	NP_001317682.1:p.Asp291His