Canonical Allele Identifier: CA2875248

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs778868448
• ExAC: 4:23815630 T / G
• gnomAD v2: 4-23815630-T-G
• gnomAD v4: 4-23814007-T-G
• MyVariant Identifiers: chr4:g.23815630T>G (hg19) ; chr4:g.23814007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814007T>G , CM000666.2:g.23814007T>G	GRCh38
NC_000004.11:g.23815630T>G , CM000666.1:g.23815630T>G	GRCh37
NC_000004.10:g.23424728T>G	NCBI36
NG_028250.1:g.81071A>C
NG_028250.2:g.663969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1476A>C MANE Select	ENSP00000264867.2:p.Glu492Asp
ENST00000264867.6:c.1476A>C	ENSP00000264867.2:p.Glu492Asp
ENST00000506055.5:c.*691A>C	ENSP00000423075.1:n.*691A>C
ENST00000509702.5:n.1516A>C
ENST00000613098.4:c.1095A>C	ENSP00000481498.1:p.Glu365Asp
NM_013261.3:c.1476A>C	NP_037393.1:p.Glu492Asp
XM_005248130.2:c.1491A>C	XP_005248187.1:p.Glu497Asp
XM_005248131.3:c.1488A>C	XP_005248188.1:p.Glu496Asp
XM_005248132.1:c.1467A>C	XP_005248189.1:p.Glu489Asp
XM_005248134.3:c.1491A>C	XP_005248191.1:p.Glu497Asp
XM_011513764.1:c.1476A>C	XP_011512066.1:p.Glu492Asp
XM_011513765.1:c.1440A>C	XP_011512067.1:p.Glu480Asp
XM_011513766.1:c.1371A>C	XP_011512068.1:p.Glu457Asp
XM_011513767.1:c.1371A>C	XP_011512069.1:p.Glu457Asp
XM_011513768.1:c.1371A>C	XP_011512070.1:p.Glu457Asp
XM_011513769.1:c.1491A>C	XP_011512071.1:p.Glu497Asp
XM_011513770.1:c.1095A>C	XP_011512072.1:p.Glu365Asp
XM_011513771.1:c.1095A>C	XP_011512073.1:p.Glu365Asp
NM_001330751.1:c.1491A>C	NP_001317680.1:p.Glu497Asp
NM_001330752.1:c.1440A>C	NP_001317681.1:p.Glu480Asp
NM_001330753.1:c.1095A>C	NP_001317682.1:p.Glu365Asp
NM_001354825.1:c.1491A>C	NP_001341754.1:p.Glu497Asp
NM_001354826.1:c.1095A>C	NP_001341755.1:p.Glu365Asp
NM_001354827.1:c.1491A>C	NP_001341756.1:p.Glu497Asp
NM_013261.4:c.1476A>C	NP_037393.1:p.Glu492Asp
NR_148981.1:n.2003A>C
NR_148982.1:n.2076A>C
NR_148983.1:n.2229A>C
NR_148984.1:n.1627A>C
NR_148985.1:n.2141A>C
NR_148986.1:n.2146A>C
NR_148987.1:n.2228A>C
XM_005248131.5:c.1488A>C	XP_005248188.1:p.Glu496Asp
XM_005248134.4:c.1491A>C	XP_005248191.1:p.Glu497Asp
XM_011513769.2:c.1491A>C	XP_011512071.1:p.Glu497Asp
XM_024453878.1:c.1491A>C	XP_024309646.1:p.Glu497Asp
NM_013261.5:c.1476A>C MANE Select	NP_037393.1:p.Glu492Asp
NM_001330751.2:c.1491A>C	NP_001317680.1:p.Glu497Asp
NM_001330752.2:c.1440A>C	NP_001317681.1:p.Glu480Asp
NM_001354825.2:c.1491A>C	NP_001341754.1:p.Glu497Asp
NM_001354826.2:c.1095A>C	NP_001341755.1:p.Glu365Asp
NM_001354827.2:c.1491A>C	NP_001341756.1:p.Glu497Asp
NR_148981.2:n.2079A>C
NR_148982.2:n.2152A>C
NR_148983.2:n.2305A>C
NR_148984.2:n.1597A>C
NR_148985.2:n.2217A>C
NR_148986.2:n.2222A>C
NR_148987.2:n.2304A>C
NM_001330753.2:c.1095A>C	NP_001317682.1:p.Glu365Asp