Canonical Allele Identifier: CA356524307

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815686A>C (hg19) ; chr4:g.23814063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814063A>C , CM000666.2:g.23814063A>C	GRCh38
NC_000004.11:g.23815686A>C , CM000666.1:g.23815686A>C	GRCh37
NC_000004.10:g.23424784A>C	NCBI36
NG_028250.1:g.81015T>G
NG_028250.2:g.663913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1420T>G MANE Select	ENSP00000264867.2:p.Phe474Val
ENST00000264867.6:c.1420T>G	ENSP00000264867.2:p.Phe474Val
ENST00000506055.5:c.*635T>G	ENSP00000423075.1:n.*635T>G
ENST00000509702.5:n.1460T>G
ENST00000613098.4:c.1039T>G	ENSP00000481498.1:p.Phe347Val
NM_013261.3:c.1420T>G	NP_037393.1:p.Phe474Val
XM_005248130.2:c.1435T>G	XP_005248187.1:p.Phe479Val
XM_005248131.3:c.1432T>G	XP_005248188.1:p.Phe478Val
XM_005248132.1:c.1411T>G	XP_005248189.1:p.Phe471Val
XM_005248134.3:c.1435T>G	XP_005248191.1:p.Phe479Val
XM_011513764.1:c.1420T>G	XP_011512066.1:p.Phe474Val
XM_011513765.1:c.1384T>G	XP_011512067.1:p.Phe462Val
XM_011513766.1:c.1315T>G	XP_011512068.1:p.Phe439Val
XM_011513767.1:c.1315T>G	XP_011512069.1:p.Phe439Val
XM_011513768.1:c.1315T>G	XP_011512070.1:p.Phe439Val
XM_011513769.1:c.1435T>G	XP_011512071.1:p.Phe479Val
XM_011513770.1:c.1039T>G	XP_011512072.1:p.Phe347Val
XM_011513771.1:c.1039T>G	XP_011512073.1:p.Phe347Val
NM_001330751.1:c.1435T>G	NP_001317680.1:p.Phe479Val
NM_001330752.1:c.1384T>G	NP_001317681.1:p.Phe462Val
NM_001330753.1:c.1039T>G	NP_001317682.1:p.Phe347Val
NM_001354825.1:c.1435T>G	NP_001341754.1:p.Phe479Val
NM_001354826.1:c.1039T>G	NP_001341755.1:p.Phe347Val
NM_001354827.1:c.1435T>G	NP_001341756.1:p.Phe479Val
NM_013261.4:c.1420T>G	NP_037393.1:p.Phe474Val
NR_148981.1:n.1947T>G
NR_148982.1:n.2020T>G
NR_148983.1:n.2173T>G
NR_148984.1:n.1571T>G
NR_148985.1:n.2085T>G
NR_148986.1:n.2090T>G
NR_148987.1:n.2172T>G
XM_005248131.5:c.1432T>G	XP_005248188.1:p.Phe478Val
XM_005248134.4:c.1435T>G	XP_005248191.1:p.Phe479Val
XM_011513769.2:c.1435T>G	XP_011512071.1:p.Phe479Val
XM_024453878.1:c.1435T>G	XP_024309646.1:p.Phe479Val
NM_013261.5:c.1420T>G MANE Select	NP_037393.1:p.Phe474Val
NM_001330751.2:c.1435T>G	NP_001317680.1:p.Phe479Val
NM_001330752.2:c.1384T>G	NP_001317681.1:p.Phe462Val
NM_001354825.2:c.1435T>G	NP_001341754.1:p.Phe479Val
NM_001354826.2:c.1039T>G	NP_001341755.1:p.Phe347Val
NM_001354827.2:c.1435T>G	NP_001341756.1:p.Phe479Val
NR_148981.2:n.2023T>G
NR_148982.2:n.2096T>G
NR_148983.2:n.2249T>G
NR_148984.2:n.1541T>G
NR_148985.2:n.2161T>G
NR_148986.2:n.2166T>G
NR_148987.2:n.2248T>G
NM_001330753.2:c.1039T>G	NP_001317682.1:p.Phe347Val