Canonical Allele Identifier: CA438896289

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1332239268
• gnomAD v3: 4-23814229-A-G
• gnomAD v4: 4-23814229-A-G
• MyVariant Identifiers: chr4:g.23815852A>G (hg19) ; chr4:g.23814229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814229A>G , CM000666.2:g.23814229A>G	GRCh38
NC_000004.11:g.23815852A>G , CM000666.1:g.23815852A>G	GRCh37
NC_000004.10:g.23424950A>G	NCBI36
NG_028250.1:g.80849T>C
NG_028250.2:g.663747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1254T>C MANE Select	ENSP00000264867.2:p.Asp418=
ENST00000264867.6:c.1254T>C	ENSP00000264867.2:p.Asp418=
ENST00000506055.5:c.*469T>C	ENSP00000423075.1:n.*469T>C
ENST00000509702.5:n.1294T>C
ENST00000613098.4:c.873T>C	ENSP00000481498.1:p.Asp291=
NM_013261.3:c.1254T>C	NP_037393.1:p.Asp418=
XM_005248130.2:c.1269T>C	XP_005248187.1:p.Asp423=
XM_005248131.3:c.1266T>C	XP_005248188.1:p.Asp422=
XM_005248132.1:c.1245T>C	XP_005248189.1:p.Asp415=
XM_005248134.3:c.1269T>C	XP_005248191.1:p.Asp423=
XM_011513764.1:c.1254T>C	XP_011512066.1:p.Asp418=
XM_011513765.1:c.1218T>C	XP_011512067.1:p.Asp406=
XM_011513766.1:c.1149T>C	XP_011512068.1:p.Asp383=
XM_011513767.1:c.1149T>C	XP_011512069.1:p.Asp383=
XM_011513768.1:c.1149T>C	XP_011512070.1:p.Asp383=
XM_011513769.1:c.1269T>C	XP_011512071.1:p.Asp423=
XM_011513770.1:c.873T>C	XP_011512072.1:p.Asp291=
XM_011513771.1:c.873T>C	XP_011512073.1:p.Asp291=
NM_001330751.1:c.1269T>C	NP_001317680.1:p.Asp423=
NM_001330752.1:c.1218T>C	NP_001317681.1:p.Asp406=
NM_001330753.1:c.873T>C	NP_001317682.1:p.Asp291=
NM_001354825.1:c.1269T>C	NP_001341754.1:p.Asp423=
NM_001354826.1:c.873T>C	NP_001341755.1:p.Asp291=
NM_001354827.1:c.1269T>C	NP_001341756.1:p.Asp423=
NM_013261.4:c.1254T>C	NP_037393.1:p.Asp418=
NR_148981.1:n.1781T>C
NR_148982.1:n.1854T>C
NR_148983.1:n.2007T>C
NR_148984.1:n.1405T>C
NR_148985.1:n.1919T>C
NR_148986.1:n.1924T>C
NR_148987.1:n.2006T>C
XM_005248131.5:c.1266T>C	XP_005248188.1:p.Asp422=
XM_005248134.4:c.1269T>C	XP_005248191.1:p.Asp423=
XM_011513769.2:c.1269T>C	XP_011512071.1:p.Asp423=
XM_024453878.1:c.1269T>C	XP_024309646.1:p.Asp423=
NM_013261.5:c.1254T>C MANE Select	NP_037393.1:p.Asp418=
NM_001330751.2:c.1269T>C	NP_001317680.1:p.Asp423=
NM_001330752.2:c.1218T>C	NP_001317681.1:p.Asp406=
NM_001354825.2:c.1269T>C	NP_001341754.1:p.Asp423=
NM_001354826.2:c.873T>C	NP_001341755.1:p.Asp291=
NM_001354827.2:c.1269T>C	NP_001341756.1:p.Asp423=
NR_148981.2:n.1857T>C
NR_148982.2:n.1930T>C
NR_148983.2:n.2083T>C
NR_148984.2:n.1375T>C
NR_148985.2:n.1995T>C
NR_148986.2:n.2000T>C
NR_148987.2:n.2082T>C
NM_001330753.2:c.873T>C	NP_001317682.1:p.Asp291=