Canonical Allele Identifier: CA356524747

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815856G>C (hg19) ; chr4:g.23814233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814233G>C , CM000666.2:g.23814233G>C	GRCh38
NC_000004.11:g.23815856G>C , CM000666.1:g.23815856G>C	GRCh37
NC_000004.10:g.23424954G>C	NCBI36
NG_028250.1:g.80845C>G
NG_028250.2:g.663743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1250C>G MANE Select	ENSP00000264867.2:p.Ser417Cys
ENST00000264867.6:c.1250C>G	ENSP00000264867.2:p.Ser417Cys
ENST00000506055.5:c.*465C>G	ENSP00000423075.1:n.*465C>G
ENST00000509702.5:n.1290C>G
ENST00000613098.4:c.869C>G	ENSP00000481498.1:p.Ser290Cys
NM_013261.3:c.1250C>G	NP_037393.1:p.Ser417Cys
XM_005248130.2:c.1265C>G	XP_005248187.1:p.Ser422Cys
XM_005248131.3:c.1262C>G	XP_005248188.1:p.Ser421Cys
XM_005248132.1:c.1241C>G	XP_005248189.1:p.Ser414Cys
XM_005248134.3:c.1265C>G	XP_005248191.1:p.Ser422Cys
XM_011513764.1:c.1250C>G	XP_011512066.1:p.Ser417Cys
XM_011513765.1:c.1214C>G	XP_011512067.1:p.Ser405Cys
XM_011513766.1:c.1145C>G	XP_011512068.1:p.Ser382Cys
XM_011513767.1:c.1145C>G	XP_011512069.1:p.Ser382Cys
XM_011513768.1:c.1145C>G	XP_011512070.1:p.Ser382Cys
XM_011513769.1:c.1265C>G	XP_011512071.1:p.Ser422Cys
XM_011513770.1:c.869C>G	XP_011512072.1:p.Ser290Cys
XM_011513771.1:c.869C>G	XP_011512073.1:p.Ser290Cys
NM_001330751.1:c.1265C>G	NP_001317680.1:p.Ser422Cys
NM_001330752.1:c.1214C>G	NP_001317681.1:p.Ser405Cys
NM_001330753.1:c.869C>G	NP_001317682.1:p.Ser290Cys
NM_001354825.1:c.1265C>G	NP_001341754.1:p.Ser422Cys
NM_001354826.1:c.869C>G	NP_001341755.1:p.Ser290Cys
NM_001354827.1:c.1265C>G	NP_001341756.1:p.Ser422Cys
NM_013261.4:c.1250C>G	NP_037393.1:p.Ser417Cys
NR_148981.1:n.1777C>G
NR_148982.1:n.1850C>G
NR_148983.1:n.2003C>G
NR_148984.1:n.1401C>G
NR_148985.1:n.1915C>G
NR_148986.1:n.1920C>G
NR_148987.1:n.2002C>G
XM_005248131.5:c.1262C>G	XP_005248188.1:p.Ser421Cys
XM_005248134.4:c.1265C>G	XP_005248191.1:p.Ser422Cys
XM_011513769.2:c.1265C>G	XP_011512071.1:p.Ser422Cys
XM_024453878.1:c.1265C>G	XP_024309646.1:p.Ser422Cys
NM_013261.5:c.1250C>G MANE Select	NP_037393.1:p.Ser417Cys
NM_001330751.2:c.1265C>G	NP_001317680.1:p.Ser422Cys
NM_001330752.2:c.1214C>G	NP_001317681.1:p.Ser405Cys
NM_001354825.2:c.1265C>G	NP_001341754.1:p.Ser422Cys
NM_001354826.2:c.869C>G	NP_001341755.1:p.Ser290Cys
NM_001354827.2:c.1265C>G	NP_001341756.1:p.Ser422Cys
NR_148981.2:n.1853C>G
NR_148982.2:n.1926C>G
NR_148983.2:n.2079C>G
NR_148984.2:n.1371C>G
NR_148985.2:n.1991C>G
NR_148986.2:n.1996C>G
NR_148987.2:n.2078C>G
NM_001330753.2:c.869C>G	NP_001317682.1:p.Ser290Cys