Canonical Allele Identifier: CA356524669

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1560353646
• MyVariant Identifiers: chr4:g.23815835C>A (hg19) ; chr4:g.23814212C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814212C>A , CM000666.2:g.23814212C>A	GRCh38
NC_000004.11:g.23815835C>A , CM000666.1:g.23815835C>A	GRCh37
NC_000004.10:g.23424933C>A	NCBI36
NG_028250.1:g.80866G>T
NG_028250.2:g.663764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1271G>T MANE Select	ENSP00000264867.2:p.Cys424Phe
ENST00000264867.6:c.1271G>T	ENSP00000264867.2:p.Cys424Phe
ENST00000506055.5:c.*486G>T	ENSP00000423075.1:n.*486G>T
ENST00000509702.5:n.1311G>T
ENST00000613098.4:c.890G>T	ENSP00000481498.1:p.Cys297Phe
NM_013261.3:c.1271G>T	NP_037393.1:p.Cys424Phe
XM_005248130.2:c.1286G>T	XP_005248187.1:p.Cys429Phe
XM_005248131.3:c.1283G>T	XP_005248188.1:p.Cys428Phe
XM_005248132.1:c.1262G>T	XP_005248189.1:p.Cys421Phe
XM_005248134.3:c.1286G>T	XP_005248191.1:p.Cys429Phe
XM_011513764.1:c.1271G>T	XP_011512066.1:p.Cys424Phe
XM_011513765.1:c.1235G>T	XP_011512067.1:p.Cys412Phe
XM_011513766.1:c.1166G>T	XP_011512068.1:p.Cys389Phe
XM_011513767.1:c.1166G>T	XP_011512069.1:p.Cys389Phe
XM_011513768.1:c.1166G>T	XP_011512070.1:p.Cys389Phe
XM_011513769.1:c.1286G>T	XP_011512071.1:p.Cys429Phe
XM_011513770.1:c.890G>T	XP_011512072.1:p.Cys297Phe
XM_011513771.1:c.890G>T	XP_011512073.1:p.Cys297Phe
NM_001330751.1:c.1286G>T	NP_001317680.1:p.Cys429Phe
NM_001330752.1:c.1235G>T	NP_001317681.1:p.Cys412Phe
NM_001330753.1:c.890G>T	NP_001317682.1:p.Cys297Phe
NM_001354825.1:c.1286G>T	NP_001341754.1:p.Cys429Phe
NM_001354826.1:c.890G>T	NP_001341755.1:p.Cys297Phe
NM_001354827.1:c.1286G>T	NP_001341756.1:p.Cys429Phe
NM_013261.4:c.1271G>T	NP_037393.1:p.Cys424Phe
NR_148981.1:n.1798G>T
NR_148982.1:n.1871G>T
NR_148983.1:n.2024G>T
NR_148984.1:n.1422G>T
NR_148985.1:n.1936G>T
NR_148986.1:n.1941G>T
NR_148987.1:n.2023G>T
XM_005248131.5:c.1283G>T	XP_005248188.1:p.Cys428Phe
XM_005248134.4:c.1286G>T	XP_005248191.1:p.Cys429Phe
XM_011513769.2:c.1286G>T	XP_011512071.1:p.Cys429Phe
XM_024453878.1:c.1286G>T	XP_024309646.1:p.Cys429Phe
NM_013261.5:c.1271G>T MANE Select	NP_037393.1:p.Cys424Phe
NM_001330751.2:c.1286G>T	NP_001317680.1:p.Cys429Phe
NM_001330752.2:c.1235G>T	NP_001317681.1:p.Cys412Phe
NM_001354825.2:c.1286G>T	NP_001341754.1:p.Cys429Phe
NM_001354826.2:c.890G>T	NP_001341755.1:p.Cys297Phe
NM_001354827.2:c.1286G>T	NP_001341756.1:p.Cys429Phe
NR_148981.2:n.1874G>T
NR_148982.2:n.1947G>T
NR_148983.2:n.2100G>T
NR_148984.2:n.1392G>T
NR_148985.2:n.2012G>T
NR_148986.2:n.2017G>T
NR_148987.2:n.2099G>T
NM_001330753.2:c.890G>T	NP_001317682.1:p.Cys297Phe