Canonical Allele Identifier: CA356524605

Gene: PPARGC1A

Linked Data

• COSMIC: COSM4159008
• MyVariant Identifiers: chr4:g.23815816G>T (hg19) ; chr4:g.23814193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814193G>T , CM000666.2:g.23814193G>T	GRCh38
NC_000004.11:g.23815816G>T , CM000666.1:g.23815816G>T	GRCh37
NC_000004.10:g.23424914G>T	NCBI36
NG_028250.1:g.80885C>A
NG_028250.2:g.663783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1290C>A MANE Select	ENSP00000264867.2:p.Asp430Glu
ENST00000264867.6:c.1290C>A	ENSP00000264867.2:p.Asp430Glu
ENST00000506055.5:c.*505C>A	ENSP00000423075.1:n.*505C>A
ENST00000509702.5:n.1330C>A
ENST00000613098.4:c.909C>A	ENSP00000481498.1:p.Asp303Glu
NM_013261.3:c.1290C>A	NP_037393.1:p.Asp430Glu
XM_005248130.2:c.1305C>A	XP_005248187.1:p.Asp435Glu
XM_005248131.3:c.1302C>A	XP_005248188.1:p.Asp434Glu
XM_005248132.1:c.1281C>A	XP_005248189.1:p.Asp427Glu
XM_005248134.3:c.1305C>A	XP_005248191.1:p.Asp435Glu
XM_011513764.1:c.1290C>A	XP_011512066.1:p.Asp430Glu
XM_011513765.1:c.1254C>A	XP_011512067.1:p.Asp418Glu
XM_011513766.1:c.1185C>A	XP_011512068.1:p.Asp395Glu
XM_011513767.1:c.1185C>A	XP_011512069.1:p.Asp395Glu
XM_011513768.1:c.1185C>A	XP_011512070.1:p.Asp395Glu
XM_011513769.1:c.1305C>A	XP_011512071.1:p.Asp435Glu
XM_011513770.1:c.909C>A	XP_011512072.1:p.Asp303Glu
XM_011513771.1:c.909C>A	XP_011512073.1:p.Asp303Glu
NM_001330751.1:c.1305C>A	NP_001317680.1:p.Asp435Glu
NM_001330752.1:c.1254C>A	NP_001317681.1:p.Asp418Glu
NM_001330753.1:c.909C>A	NP_001317682.1:p.Asp303Glu
NM_001354825.1:c.1305C>A	NP_001341754.1:p.Asp435Glu
NM_001354826.1:c.909C>A	NP_001341755.1:p.Asp303Glu
NM_001354827.1:c.1305C>A	NP_001341756.1:p.Asp435Glu
NM_013261.4:c.1290C>A	NP_037393.1:p.Asp430Glu
NR_148981.1:n.1817C>A
NR_148982.1:n.1890C>A
NR_148983.1:n.2043C>A
NR_148984.1:n.1441C>A
NR_148985.1:n.1955C>A
NR_148986.1:n.1960C>A
NR_148987.1:n.2042C>A
XM_005248131.5:c.1302C>A	XP_005248188.1:p.Asp434Glu
XM_005248134.4:c.1305C>A	XP_005248191.1:p.Asp435Glu
XM_011513769.2:c.1305C>A	XP_011512071.1:p.Asp435Glu
XM_024453878.1:c.1305C>A	XP_024309646.1:p.Asp435Glu
NM_013261.5:c.1290C>A MANE Select	NP_037393.1:p.Asp430Glu
NM_001330751.2:c.1305C>A	NP_001317680.1:p.Asp435Glu
NM_001330752.2:c.1254C>A	NP_001317681.1:p.Asp418Glu
NM_001354825.2:c.1305C>A	NP_001341754.1:p.Asp435Glu
NM_001354826.2:c.909C>A	NP_001341755.1:p.Asp303Glu
NM_001354827.2:c.1305C>A	NP_001341756.1:p.Asp435Glu
NR_148981.2:n.1893C>A
NR_148982.2:n.1966C>A
NR_148983.2:n.2119C>A
NR_148984.2:n.1411C>A
NR_148985.2:n.2031C>A
NR_148986.2:n.2036C>A
NR_148987.2:n.2118C>A
NM_001330753.2:c.909C>A	NP_001317682.1:p.Asp303Glu