Canonical Allele Identifier: CA2875283

Gene: PPARGC1A

Linked Data

• ClinVar Variation Id: 788779
• ClinVar RCV Id: RCV000971272 ; RCV003918460
• dbSNP Id: rs34514918
• ExAC: 4:23815878 G / T
• gnomAD v2: 4-23815878-G-T
• gnomAD v3: 4-23814255-G-T
• gnomAD v4: 4-23814255-G-T
• MyVariant Identifiers: chr4:g.23815878G>T (hg19) ; chr4:g.23814255G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814255G>T , CM000666.2:g.23814255G>T	GRCh38
NC_000004.11:g.23815878G>T , CM000666.1:g.23815878G>T	GRCh37
NC_000004.10:g.23424976G>T	NCBI36
NG_028250.1:g.80823C>A
NG_028250.2:g.663721C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1228C>A MANE Select	ENSP00000264867.2:p.Leu410Ile
ENST00000264867.6:c.1228C>A	ENSP00000264867.2:p.Leu410Ile
ENST00000506055.5:c.*443C>A	ENSP00000423075.1:n.*443C>A
ENST00000509702.5:n.1268C>A
ENST00000613098.4:c.847C>A	ENSP00000481498.1:p.Leu283Ile
NM_013261.3:c.1228C>A	NP_037393.1:p.Leu410Ile
XM_005248130.2:c.1243C>A	XP_005248187.1:p.Leu415Ile
XM_005248131.3:c.1240C>A	XP_005248188.1:p.Leu414Ile
XM_005248132.1:c.1219C>A	XP_005248189.1:p.Leu407Ile
XM_005248134.3:c.1243C>A	XP_005248191.1:p.Leu415Ile
XM_011513764.1:c.1228C>A	XP_011512066.1:p.Leu410Ile
XM_011513765.1:c.1192C>A	XP_011512067.1:p.Leu398Ile
XM_011513766.1:c.1123C>A	XP_011512068.1:p.Leu375Ile
XM_011513767.1:c.1123C>A	XP_011512069.1:p.Leu375Ile
XM_011513768.1:c.1123C>A	XP_011512070.1:p.Leu375Ile
XM_011513769.1:c.1243C>A	XP_011512071.1:p.Leu415Ile
XM_011513770.1:c.847C>A	XP_011512072.1:p.Leu283Ile
XM_011513771.1:c.847C>A	XP_011512073.1:p.Leu283Ile
NM_001330751.1:c.1243C>A	NP_001317680.1:p.Leu415Ile
NM_001330752.1:c.1192C>A	NP_001317681.1:p.Leu398Ile
NM_001330753.1:c.847C>A	NP_001317682.1:p.Leu283Ile
NM_001354825.1:c.1243C>A	NP_001341754.1:p.Leu415Ile
NM_001354826.1:c.847C>A	NP_001341755.1:p.Leu283Ile
NM_001354827.1:c.1243C>A	NP_001341756.1:p.Leu415Ile
NM_013261.4:c.1228C>A	NP_037393.1:p.Leu410Ile
NR_148981.1:n.1755C>A
NR_148982.1:n.1828C>A
NR_148983.1:n.1981C>A
NR_148984.1:n.1379C>A
NR_148985.1:n.1893C>A
NR_148986.1:n.1898C>A
NR_148987.1:n.1980C>A
XM_005248131.5:c.1240C>A	XP_005248188.1:p.Leu414Ile
XM_005248134.4:c.1243C>A	XP_005248191.1:p.Leu415Ile
XM_011513769.2:c.1243C>A	XP_011512071.1:p.Leu415Ile
XM_024453878.1:c.1243C>A	XP_024309646.1:p.Leu415Ile
NM_013261.5:c.1228C>A MANE Select	NP_037393.1:p.Leu410Ile
NM_001330751.2:c.1243C>A	NP_001317680.1:p.Leu415Ile
NM_001330752.2:c.1192C>A	NP_001317681.1:p.Leu398Ile
NM_001354825.2:c.1243C>A	NP_001341754.1:p.Leu415Ile
NM_001354826.2:c.847C>A	NP_001341755.1:p.Leu283Ile
NM_001354827.2:c.1243C>A	NP_001341756.1:p.Leu415Ile
NR_148981.2:n.1831C>A
NR_148982.2:n.1904C>A
NR_148983.2:n.2057C>A
NR_148984.2:n.1349C>A
NR_148985.2:n.1969C>A
NR_148986.2:n.1974C>A
NR_148987.2:n.2056C>A
NM_001330753.2:c.847C>A	NP_001317682.1:p.Leu283Ile