Canonical Allele Identifier: CA356524682

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1721497092
• gnomAD v3: 4-23814215-A-C
• gnomAD v4: 4-23814215-A-C
• MyVariant Identifiers: chr4:g.23815838A>C (hg19) ; chr4:g.23814215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814215A>C , CM000666.2:g.23814215A>C	GRCh38
NC_000004.11:g.23815838A>C , CM000666.1:g.23815838A>C	GRCh37
NC_000004.10:g.23424936A>C	NCBI36
NG_028250.1:g.80863T>G
NG_028250.2:g.663761T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1268T>G MANE Select	ENSP00000264867.2:p.Ile423Ser
ENST00000264867.6:c.1268T>G	ENSP00000264867.2:p.Ile423Ser
ENST00000506055.5:c.*483T>G	ENSP00000423075.1:n.*483T>G
ENST00000509702.5:n.1308T>G
ENST00000613098.4:c.887T>G	ENSP00000481498.1:p.Ile296Ser
NM_013261.3:c.1268T>G	NP_037393.1:p.Ile423Ser
XM_005248130.2:c.1283T>G	XP_005248187.1:p.Ile428Ser
XM_005248131.3:c.1280T>G	XP_005248188.1:p.Ile427Ser
XM_005248132.1:c.1259T>G	XP_005248189.1:p.Ile420Ser
XM_005248134.3:c.1283T>G	XP_005248191.1:p.Ile428Ser
XM_011513764.1:c.1268T>G	XP_011512066.1:p.Ile423Ser
XM_011513765.1:c.1232T>G	XP_011512067.1:p.Ile411Ser
XM_011513766.1:c.1163T>G	XP_011512068.1:p.Ile388Ser
XM_011513767.1:c.1163T>G	XP_011512069.1:p.Ile388Ser
XM_011513768.1:c.1163T>G	XP_011512070.1:p.Ile388Ser
XM_011513769.1:c.1283T>G	XP_011512071.1:p.Ile428Ser
XM_011513770.1:c.887T>G	XP_011512072.1:p.Ile296Ser
XM_011513771.1:c.887T>G	XP_011512073.1:p.Ile296Ser
NM_001330751.1:c.1283T>G	NP_001317680.1:p.Ile428Ser
NM_001330752.1:c.1232T>G	NP_001317681.1:p.Ile411Ser
NM_001330753.1:c.887T>G	NP_001317682.1:p.Ile296Ser
NM_001354825.1:c.1283T>G	NP_001341754.1:p.Ile428Ser
NM_001354826.1:c.887T>G	NP_001341755.1:p.Ile296Ser
NM_001354827.1:c.1283T>G	NP_001341756.1:p.Ile428Ser
NM_013261.4:c.1268T>G	NP_037393.1:p.Ile423Ser
NR_148981.1:n.1795T>G
NR_148982.1:n.1868T>G
NR_148983.1:n.2021T>G
NR_148984.1:n.1419T>G
NR_148985.1:n.1933T>G
NR_148986.1:n.1938T>G
NR_148987.1:n.2020T>G
XM_005248131.5:c.1280T>G	XP_005248188.1:p.Ile427Ser
XM_005248134.4:c.1283T>G	XP_005248191.1:p.Ile428Ser
XM_011513769.2:c.1283T>G	XP_011512071.1:p.Ile428Ser
XM_024453878.1:c.1283T>G	XP_024309646.1:p.Ile428Ser
NM_013261.5:c.1268T>G MANE Select	NP_037393.1:p.Ile423Ser
NM_001330751.2:c.1283T>G	NP_001317680.1:p.Ile428Ser
NM_001330752.2:c.1232T>G	NP_001317681.1:p.Ile411Ser
NM_001354825.2:c.1283T>G	NP_001341754.1:p.Ile428Ser
NM_001354826.2:c.887T>G	NP_001341755.1:p.Ile296Ser
NM_001354827.2:c.1283T>G	NP_001341756.1:p.Ile428Ser
NR_148981.2:n.1871T>G
NR_148982.2:n.1944T>G
NR_148983.2:n.2097T>G
NR_148984.2:n.1389T>G
NR_148985.2:n.2009T>G
NR_148986.2:n.2014T>G
NR_148987.2:n.2096T>G
NM_001330753.2:c.887T>G	NP_001317682.1:p.Ile296Ser