Canonical Allele Identifier: CA356524874

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815892T>A (hg19) ; chr4:g.23814269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814269T>A , CM000666.2:g.23814269T>A	GRCh38
NC_000004.11:g.23815892T>A , CM000666.1:g.23815892T>A	GRCh37
NC_000004.10:g.23424990T>A	NCBI36
NG_028250.1:g.80809A>T
NG_028250.2:g.663707A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1214A>T MANE Select	ENSP00000264867.2:p.Gln405Leu
ENST00000264867.6:c.1214A>T	ENSP00000264867.2:p.Gln405Leu
ENST00000506055.5:c.*429A>T	ENSP00000423075.1:n.*429A>T
ENST00000509702.5:n.1254A>T
ENST00000613098.4:c.833A>T	ENSP00000481498.1:p.Gln278Leu
NM_013261.3:c.1214A>T	NP_037393.1:p.Gln405Leu
XM_005248130.2:c.1229A>T	XP_005248187.1:p.Gln410Leu
XM_005248131.3:c.1226A>T	XP_005248188.1:p.Gln409Leu
XM_005248132.1:c.1205A>T	XP_005248189.1:p.Gln402Leu
XM_005248134.3:c.1229A>T	XP_005248191.1:p.Gln410Leu
XM_011513764.1:c.1214A>T	XP_011512066.1:p.Gln405Leu
XM_011513765.1:c.1178A>T	XP_011512067.1:p.Gln393Leu
XM_011513766.1:c.1109A>T	XP_011512068.1:p.Gln370Leu
XM_011513767.1:c.1109A>T	XP_011512069.1:p.Gln370Leu
XM_011513768.1:c.1109A>T	XP_011512070.1:p.Gln370Leu
XM_011513769.1:c.1229A>T	XP_011512071.1:p.Gln410Leu
XM_011513770.1:c.833A>T	XP_011512072.1:p.Gln278Leu
XM_011513771.1:c.833A>T	XP_011512073.1:p.Gln278Leu
NM_001330751.1:c.1229A>T	NP_001317680.1:p.Gln410Leu
NM_001330752.1:c.1178A>T	NP_001317681.1:p.Gln393Leu
NM_001330753.1:c.833A>T	NP_001317682.1:p.Gln278Leu
NM_001354825.1:c.1229A>T	NP_001341754.1:p.Gln410Leu
NM_001354826.1:c.833A>T	NP_001341755.1:p.Gln278Leu
NM_001354827.1:c.1229A>T	NP_001341756.1:p.Gln410Leu
NM_013261.4:c.1214A>T	NP_037393.1:p.Gln405Leu
NR_148981.1:n.1741A>T
NR_148982.1:n.1814A>T
NR_148983.1:n.1967A>T
NR_148984.1:n.1365A>T
NR_148985.1:n.1879A>T
NR_148986.1:n.1884A>T
NR_148987.1:n.1966A>T
XM_005248131.5:c.1226A>T	XP_005248188.1:p.Gln409Leu
XM_005248134.4:c.1229A>T	XP_005248191.1:p.Gln410Leu
XM_011513769.2:c.1229A>T	XP_011512071.1:p.Gln410Leu
XM_024453878.1:c.1229A>T	XP_024309646.1:p.Gln410Leu
NM_013261.5:c.1214A>T MANE Select	NP_037393.1:p.Gln405Leu
NM_001330751.2:c.1229A>T	NP_001317680.1:p.Gln410Leu
NM_001330752.2:c.1178A>T	NP_001317681.1:p.Gln393Leu
NM_001354825.2:c.1229A>T	NP_001341754.1:p.Gln410Leu
NM_001354826.2:c.833A>T	NP_001341755.1:p.Gln278Leu
NM_001354827.2:c.1229A>T	NP_001341756.1:p.Gln410Leu
NR_148981.2:n.1817A>T
NR_148982.2:n.1890A>T
NR_148983.2:n.2043A>T
NR_148984.2:n.1335A>T
NR_148985.2:n.1955A>T
NR_148986.2:n.1960A>T
NR_148987.2:n.2042A>T
NM_001330753.2:c.833A>T	NP_001317682.1:p.Gln278Leu