Canonical Allele Identifier: CA356524611

Gene: PPARGC1A

Linked Data

• COSMIC: COSM1581513
• MyVariant Identifiers: chr4:g.23815818C>A (hg19) ; chr4:g.23814195C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814195C>A , CM000666.2:g.23814195C>A	GRCh38
NC_000004.11:g.23815818C>A , CM000666.1:g.23815818C>A	GRCh37
NC_000004.10:g.23424916C>A	NCBI36
NG_028250.1:g.80883G>T
NG_028250.2:g.663781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1288G>T MANE Select	ENSP00000264867.2:p.Asp430Tyr
ENST00000264867.6:c.1288G>T	ENSP00000264867.2:p.Asp430Tyr
ENST00000506055.5:c.*503G>T	ENSP00000423075.1:n.*503G>T
ENST00000509702.5:n.1328G>T
ENST00000613098.4:c.907G>T	ENSP00000481498.1:p.Asp303Tyr
NM_013261.3:c.1288G>T	NP_037393.1:p.Asp430Tyr
XM_005248130.2:c.1303G>T	XP_005248187.1:p.Asp435Tyr
XM_005248131.3:c.1300G>T	XP_005248188.1:p.Asp434Tyr
XM_005248132.1:c.1279G>T	XP_005248189.1:p.Asp427Tyr
XM_005248134.3:c.1303G>T	XP_005248191.1:p.Asp435Tyr
XM_011513764.1:c.1288G>T	XP_011512066.1:p.Asp430Tyr
XM_011513765.1:c.1252G>T	XP_011512067.1:p.Asp418Tyr
XM_011513766.1:c.1183G>T	XP_011512068.1:p.Asp395Tyr
XM_011513767.1:c.1183G>T	XP_011512069.1:p.Asp395Tyr
XM_011513768.1:c.1183G>T	XP_011512070.1:p.Asp395Tyr
XM_011513769.1:c.1303G>T	XP_011512071.1:p.Asp435Tyr
XM_011513770.1:c.907G>T	XP_011512072.1:p.Asp303Tyr
XM_011513771.1:c.907G>T	XP_011512073.1:p.Asp303Tyr
NM_001330751.1:c.1303G>T	NP_001317680.1:p.Asp435Tyr
NM_001330752.1:c.1252G>T	NP_001317681.1:p.Asp418Tyr
NM_001330753.1:c.907G>T	NP_001317682.1:p.Asp303Tyr
NM_001354825.1:c.1303G>T	NP_001341754.1:p.Asp435Tyr
NM_001354826.1:c.907G>T	NP_001341755.1:p.Asp303Tyr
NM_001354827.1:c.1303G>T	NP_001341756.1:p.Asp435Tyr
NM_013261.4:c.1288G>T	NP_037393.1:p.Asp430Tyr
NR_148981.1:n.1815G>T
NR_148982.1:n.1888G>T
NR_148983.1:n.2041G>T
NR_148984.1:n.1439G>T
NR_148985.1:n.1953G>T
NR_148986.1:n.1958G>T
NR_148987.1:n.2040G>T
XM_005248131.5:c.1300G>T	XP_005248188.1:p.Asp434Tyr
XM_005248134.4:c.1303G>T	XP_005248191.1:p.Asp435Tyr
XM_011513769.2:c.1303G>T	XP_011512071.1:p.Asp435Tyr
XM_024453878.1:c.1303G>T	XP_024309646.1:p.Asp435Tyr
NM_013261.5:c.1288G>T MANE Select	NP_037393.1:p.Asp430Tyr
NM_001330751.2:c.1303G>T	NP_001317680.1:p.Asp435Tyr
NM_001330752.2:c.1252G>T	NP_001317681.1:p.Asp418Tyr
NM_001354825.2:c.1303G>T	NP_001341754.1:p.Asp435Tyr
NM_001354826.2:c.907G>T	NP_001341755.1:p.Asp303Tyr
NM_001354827.2:c.1303G>T	NP_001341756.1:p.Asp435Tyr
NR_148981.2:n.1891G>T
NR_148982.2:n.1964G>T
NR_148983.2:n.2117G>T
NR_148984.2:n.1409G>T
NR_148985.2:n.2029G>T
NR_148986.2:n.2034G>T
NR_148987.2:n.2116G>T
NM_001330753.2:c.907G>T	NP_001317682.1:p.Asp303Tyr