Canonical Allele Identifier: CA356524574

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815805A>T (hg19) ; chr4:g.23814182A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814182A>T , CM000666.2:g.23814182A>T	GRCh38
NC_000004.11:g.23815805A>T , CM000666.1:g.23815805A>T	GRCh37
NC_000004.10:g.23424903A>T	NCBI36
NG_028250.1:g.80896T>A
NG_028250.2:g.663794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1301T>A MANE Select	ENSP00000264867.2:p.Leu434Gln
ENST00000264867.6:c.1301T>A	ENSP00000264867.2:p.Leu434Gln
ENST00000506055.5:c.*516T>A	ENSP00000423075.1:n.*516T>A
ENST00000509702.5:n.1341T>A
ENST00000613098.4:c.920T>A	ENSP00000481498.1:p.Leu307Gln
NM_013261.3:c.1301T>A	NP_037393.1:p.Leu434Gln
XM_005248130.2:c.1316T>A	XP_005248187.1:p.Leu439Gln
XM_005248131.3:c.1313T>A	XP_005248188.1:p.Leu438Gln
XM_005248132.1:c.1292T>A	XP_005248189.1:p.Leu431Gln
XM_005248134.3:c.1316T>A	XP_005248191.1:p.Leu439Gln
XM_011513764.1:c.1301T>A	XP_011512066.1:p.Leu434Gln
XM_011513765.1:c.1265T>A	XP_011512067.1:p.Leu422Gln
XM_011513766.1:c.1196T>A	XP_011512068.1:p.Leu399Gln
XM_011513767.1:c.1196T>A	XP_011512069.1:p.Leu399Gln
XM_011513768.1:c.1196T>A	XP_011512070.1:p.Leu399Gln
XM_011513769.1:c.1316T>A	XP_011512071.1:p.Leu439Gln
XM_011513770.1:c.920T>A	XP_011512072.1:p.Leu307Gln
XM_011513771.1:c.920T>A	XP_011512073.1:p.Leu307Gln
NM_001330751.1:c.1316T>A	NP_001317680.1:p.Leu439Gln
NM_001330752.1:c.1265T>A	NP_001317681.1:p.Leu422Gln
NM_001330753.1:c.920T>A	NP_001317682.1:p.Leu307Gln
NM_001354825.1:c.1316T>A	NP_001341754.1:p.Leu439Gln
NM_001354826.1:c.920T>A	NP_001341755.1:p.Leu307Gln
NM_001354827.1:c.1316T>A	NP_001341756.1:p.Leu439Gln
NM_013261.4:c.1301T>A	NP_037393.1:p.Leu434Gln
NR_148981.1:n.1828T>A
NR_148982.1:n.1901T>A
NR_148983.1:n.2054T>A
NR_148984.1:n.1452T>A
NR_148985.1:n.1966T>A
NR_148986.1:n.1971T>A
NR_148987.1:n.2053T>A
XM_005248131.5:c.1313T>A	XP_005248188.1:p.Leu438Gln
XM_005248134.4:c.1316T>A	XP_005248191.1:p.Leu439Gln
XM_011513769.2:c.1316T>A	XP_011512071.1:p.Leu439Gln
XM_024453878.1:c.1316T>A	XP_024309646.1:p.Leu439Gln
NM_013261.5:c.1301T>A MANE Select	NP_037393.1:p.Leu434Gln
NM_001330751.2:c.1316T>A	NP_001317680.1:p.Leu439Gln
NM_001330752.2:c.1265T>A	NP_001317681.1:p.Leu422Gln
NM_001354825.2:c.1316T>A	NP_001341754.1:p.Leu439Gln
NM_001354826.2:c.920T>A	NP_001341755.1:p.Leu307Gln
NM_001354827.2:c.1316T>A	NP_001341756.1:p.Leu439Gln
NR_148981.2:n.1904T>A
NR_148982.2:n.1977T>A
NR_148983.2:n.2130T>A
NR_148984.2:n.1422T>A
NR_148985.2:n.2042T>A
NR_148986.2:n.2047T>A
NR_148987.2:n.2129T>A
NM_001330753.2:c.920T>A	NP_001317682.1:p.Leu307Gln