Canonical Allele Identifier: CA356522718

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23813084G>C , CM000666.2:g.23813084G>C	GRCh38
NC_000004.11:g.23814707G>C , CM000666.1:g.23814707G>C	GRCh37
NC_000004.10:g.23423805G>C	NCBI36
NG_028250.1:g.81994C>G
NG_028250.2:g.664892C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013261.5:c.1835C>G MANE Select	NP_037393.1:p.Thr612Arg
ENST00000264867.7:c.1835C>G MANE Select	ENSP00000264867.2:p.Thr612Arg
NM_001330751.1:c.1850C>G	NP_001317680.1:p.Thr617Arg
NM_001330751.2:c.1850C>G	NP_001317680.1:p.Thr617Arg
NM_001330752.1:c.1799C>G	NP_001317681.1:p.Thr600Arg
NM_001330752.2:c.1799C>G	NP_001317681.1:p.Thr600Arg
NM_001330753.1:c.1454C>G	NP_001317682.1:p.Thr485Arg
NM_001330753.2:c.1454C>G	NP_001317682.1:p.Thr485Arg
NM_001354825.1:c.1850C>G	NP_001341754.1:p.Thr617Arg
NM_001354825.2:c.1850C>G	NP_001341754.1:p.Thr617Arg
NM_001354826.1:c.1454C>G	NP_001341755.1:p.Thr485Arg
NM_001354826.2:c.1454C>G	NP_001341755.1:p.Thr485Arg
NM_001354827.1:c.1850C>G	NP_001341756.1:p.Thr617Arg
NM_001354827.2:c.1850C>G	NP_001341756.1:p.Thr617Arg
NM_013261.3:c.1835C>G	NP_037393.1:p.Thr612Arg
NM_013261.4:c.1835C>G	NP_037393.1:p.Thr612Arg
NR_148981.1:n.2362C>G
NR_148981.2:n.2438C>G
NR_148982.1:n.2435C>G
NR_148982.2:n.2511C>G
NR_148983.1:n.2588C>G
NR_148983.2:n.2664C>G
NR_148984.1:n.1986C>G
NR_148984.2:n.1956C>G
NR_148985.1:n.2500C>G
NR_148985.2:n.2576C>G
NR_148986.1:n.2505C>G
NR_148986.2:n.2581C>G
NR_148987.1:n.2587C>G
NR_148987.2:n.2663C>G
ENST00000264867.6:c.1835C>G	ENSP00000264867.2:p.Thr612Arg
ENST00000506055.5:c.*1050C>G	ENSP00000423075.1:n.*1050C>G
ENST00000509702.5:n.1875C>G
ENST00000613098.4:c.1454C>G	ENSP00000481498.1:p.Thr485Arg
XM_005248130.2:c.1850C>G	XP_005248187.1:p.Thr617Arg
XM_005248131.3:c.1847C>G	XP_005248188.1:p.Thr616Arg
XM_005248131.5:c.1847C>G	XP_005248188.1:p.Thr616Arg
XM_005248132.1:c.1826C>G	XP_005248189.1:p.Thr609Arg
XM_005248134.3:c.1850C>G	XP_005248191.1:p.Thr617Arg
XM_005248134.4:c.1850C>G	XP_005248191.1:p.Thr617Arg
XM_011513764.1:c.1835C>G	XP_011512066.1:p.Thr612Arg
XM_011513765.1:c.1799C>G	XP_011512067.1:p.Thr600Arg
XM_011513766.1:c.1730C>G	XP_011512068.1:p.Thr577Arg
XM_011513767.1:c.1730C>G	XP_011512069.1:p.Thr577Arg
XM_011513768.1:c.1730C>G	XP_011512070.1:p.Thr577Arg
XM_011513769.1:c.1850C>G	XP_011512071.1:p.Thr617Arg
XM_011513769.2:c.1850C>G	XP_011512071.1:p.Thr617Arg
XM_011513770.1:c.1454C>G	XP_011512072.1:p.Thr485Arg
XM_011513771.1:c.1454C>G	XP_011512073.1:p.Thr485Arg
XM_024453878.1:c.1850C>G	XP_024309646.1:p.Thr617Arg