Canonical Allele Identifier: CA356524246

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815659C>G (hg19) ; chr4:g.23814036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814036C>G , CM000666.2:g.23814036C>G	GRCh38
NC_000004.11:g.23815659C>G , CM000666.1:g.23815659C>G	GRCh37
NC_000004.10:g.23424757C>G	NCBI36
NG_028250.1:g.81042G>C
NG_028250.2:g.663940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1447G>C MANE Select	ENSP00000264867.2:p.Glu483Gln
ENST00000264867.6:c.1447G>C	ENSP00000264867.2:p.Glu483Gln
ENST00000506055.5:c.*662G>C	ENSP00000423075.1:n.*662G>C
ENST00000509702.5:n.1487G>C
ENST00000613098.4:c.1066G>C	ENSP00000481498.1:p.Glu356Gln
NM_013261.3:c.1447G>C	NP_037393.1:p.Glu483Gln
XM_005248130.2:c.1462G>C	XP_005248187.1:p.Glu488Gln
XM_005248131.3:c.1459G>C	XP_005248188.1:p.Glu487Gln
XM_005248132.1:c.1438G>C	XP_005248189.1:p.Glu480Gln
XM_005248134.3:c.1462G>C	XP_005248191.1:p.Glu488Gln
XM_011513764.1:c.1447G>C	XP_011512066.1:p.Glu483Gln
XM_011513765.1:c.1411G>C	XP_011512067.1:p.Glu471Gln
XM_011513766.1:c.1342G>C	XP_011512068.1:p.Glu448Gln
XM_011513767.1:c.1342G>C	XP_011512069.1:p.Glu448Gln
XM_011513768.1:c.1342G>C	XP_011512070.1:p.Glu448Gln
XM_011513769.1:c.1462G>C	XP_011512071.1:p.Glu488Gln
XM_011513770.1:c.1066G>C	XP_011512072.1:p.Glu356Gln
XM_011513771.1:c.1066G>C	XP_011512073.1:p.Glu356Gln
NM_001330751.1:c.1462G>C	NP_001317680.1:p.Glu488Gln
NM_001330752.1:c.1411G>C	NP_001317681.1:p.Glu471Gln
NM_001330753.1:c.1066G>C	NP_001317682.1:p.Glu356Gln
NM_001354825.1:c.1462G>C	NP_001341754.1:p.Glu488Gln
NM_001354826.1:c.1066G>C	NP_001341755.1:p.Glu356Gln
NM_001354827.1:c.1462G>C	NP_001341756.1:p.Glu488Gln
NM_013261.4:c.1447G>C	NP_037393.1:p.Glu483Gln
NR_148981.1:n.1974G>C
NR_148982.1:n.2047G>C
NR_148983.1:n.2200G>C
NR_148984.1:n.1598G>C
NR_148985.1:n.2112G>C
NR_148986.1:n.2117G>C
NR_148987.1:n.2199G>C
XM_005248131.5:c.1459G>C	XP_005248188.1:p.Glu487Gln
XM_005248134.4:c.1462G>C	XP_005248191.1:p.Glu488Gln
XM_011513769.2:c.1462G>C	XP_011512071.1:p.Glu488Gln
XM_024453878.1:c.1462G>C	XP_024309646.1:p.Glu488Gln
NM_013261.5:c.1447G>C MANE Select	NP_037393.1:p.Glu483Gln
NM_001330751.2:c.1462G>C	NP_001317680.1:p.Glu488Gln
NM_001330752.2:c.1411G>C	NP_001317681.1:p.Glu471Gln
NM_001354825.2:c.1462G>C	NP_001341754.1:p.Glu488Gln
NM_001354826.2:c.1066G>C	NP_001341755.1:p.Glu356Gln
NM_001354827.2:c.1462G>C	NP_001341756.1:p.Glu488Gln
NR_148981.2:n.2050G>C
NR_148982.2:n.2123G>C
NR_148983.2:n.2276G>C
NR_148984.2:n.1568G>C
NR_148985.2:n.2188G>C
NR_148986.2:n.2193G>C
NR_148987.2:n.2275G>C
NM_001330753.2:c.1066G>C	NP_001317682.1:p.Glu356Gln