Canonical Allele Identifier: CA356524293

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815680C>G (hg19) ; chr4:g.23814057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814057C>G , CM000666.2:g.23814057C>G	GRCh38
NC_000004.11:g.23815680C>G , CM000666.1:g.23815680C>G	GRCh37
NC_000004.10:g.23424778C>G	NCBI36
NG_028250.1:g.81021G>C
NG_028250.2:g.663919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1426G>C MANE Select	ENSP00000264867.2:p.Asp476His
ENST00000264867.6:c.1426G>C	ENSP00000264867.2:p.Asp476His
ENST00000506055.5:c.*641G>C	ENSP00000423075.1:n.*641G>C
ENST00000509702.5:n.1466G>C
ENST00000613098.4:c.1045G>C	ENSP00000481498.1:p.Asp349His
NM_013261.3:c.1426G>C	NP_037393.1:p.Asp476His
XM_005248130.2:c.1441G>C	XP_005248187.1:p.Asp481His
XM_005248131.3:c.1438G>C	XP_005248188.1:p.Asp480His
XM_005248132.1:c.1417G>C	XP_005248189.1:p.Asp473His
XM_005248134.3:c.1441G>C	XP_005248191.1:p.Asp481His
XM_011513764.1:c.1426G>C	XP_011512066.1:p.Asp476His
XM_011513765.1:c.1390G>C	XP_011512067.1:p.Asp464His
XM_011513766.1:c.1321G>C	XP_011512068.1:p.Asp441His
XM_011513767.1:c.1321G>C	XP_011512069.1:p.Asp441His
XM_011513768.1:c.1321G>C	XP_011512070.1:p.Asp441His
XM_011513769.1:c.1441G>C	XP_011512071.1:p.Asp481His
XM_011513770.1:c.1045G>C	XP_011512072.1:p.Asp349His
XM_011513771.1:c.1045G>C	XP_011512073.1:p.Asp349His
NM_001330751.1:c.1441G>C	NP_001317680.1:p.Asp481His
NM_001330752.1:c.1390G>C	NP_001317681.1:p.Asp464His
NM_001330753.1:c.1045G>C	NP_001317682.1:p.Asp349His
NM_001354825.1:c.1441G>C	NP_001341754.1:p.Asp481His
NM_001354826.1:c.1045G>C	NP_001341755.1:p.Asp349His
NM_001354827.1:c.1441G>C	NP_001341756.1:p.Asp481His
NM_013261.4:c.1426G>C	NP_037393.1:p.Asp476His
NR_148981.1:n.1953G>C
NR_148982.1:n.2026G>C
NR_148983.1:n.2179G>C
NR_148984.1:n.1577G>C
NR_148985.1:n.2091G>C
NR_148986.1:n.2096G>C
NR_148987.1:n.2178G>C
XM_005248131.5:c.1438G>C	XP_005248188.1:p.Asp480His
XM_005248134.4:c.1441G>C	XP_005248191.1:p.Asp481His
XM_011513769.2:c.1441G>C	XP_011512071.1:p.Asp481His
XM_024453878.1:c.1441G>C	XP_024309646.1:p.Asp481His
NM_013261.5:c.1426G>C MANE Select	NP_037393.1:p.Asp476His
NM_001330751.2:c.1441G>C	NP_001317680.1:p.Asp481His
NM_001330752.2:c.1390G>C	NP_001317681.1:p.Asp464His
NM_001354825.2:c.1441G>C	NP_001341754.1:p.Asp481His
NM_001354826.2:c.1045G>C	NP_001341755.1:p.Asp349His
NM_001354827.2:c.1441G>C	NP_001341756.1:p.Asp481His
NR_148981.2:n.2029G>C
NR_148982.2:n.2102G>C
NR_148983.2:n.2255G>C
NR_148984.2:n.1547G>C
NR_148985.2:n.2167G>C
NR_148986.2:n.2172G>C
NR_148987.2:n.2254G>C
NM_001330753.2:c.1045G>C	NP_001317682.1:p.Asp349His