Canonical Allele Identifier: CA356524831
Gene: PPARGC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814257T>C , CM000666.2:g.23814257T>C GRCh38
NC_000004.11:g.23815880T>C , CM000666.1:g.23815880T>C GRCh37
NC_000004.10:g.23424978T>C NCBI36
NG_028250.1:g.80821A>G
NG_028250.2:g.663719A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1226A>G MANE Select ENSP00000264867.2:p.Gln409Arg
ENST00000264867.6:c.1226A>G ENSP00000264867.2:p.Gln409Arg
ENST00000506055.5:c.*441A>G ENSP00000423075.1:n.*441A>G
ENST00000509702.5:n.1266A>G
ENST00000613098.4:c.845A>G ENSP00000481498.1:p.Gln282Arg
NM_013261.3:c.1226A>G NP_037393.1:p.Gln409Arg
XM_005248130.2:c.1241A>G XP_005248187.1:p.Gln414Arg
XM_005248131.3:c.1238A>G XP_005248188.1:p.Gln413Arg
XM_005248132.1:c.1217A>G XP_005248189.1:p.Gln406Arg
XM_005248134.3:c.1241A>G XP_005248191.1:p.Gln414Arg
XM_011513764.1:c.1226A>G XP_011512066.1:p.Gln409Arg
XM_011513765.1:c.1190A>G XP_011512067.1:p.Gln397Arg
XM_011513766.1:c.1121A>G XP_011512068.1:p.Gln374Arg
XM_011513767.1:c.1121A>G XP_011512069.1:p.Gln374Arg
XM_011513768.1:c.1121A>G XP_011512070.1:p.Gln374Arg
XM_011513769.1:c.1241A>G XP_011512071.1:p.Gln414Arg
XM_011513770.1:c.845A>G XP_011512072.1:p.Gln282Arg
XM_011513771.1:c.845A>G XP_011512073.1:p.Gln282Arg
NM_001330751.1:c.1241A>G NP_001317680.1:p.Gln414Arg
NM_001330752.1:c.1190A>G NP_001317681.1:p.Gln397Arg
NM_001330753.1:c.845A>G NP_001317682.1:p.Gln282Arg
NM_001354825.1:c.1241A>G NP_001341754.1:p.Gln414Arg
NM_001354826.1:c.845A>G NP_001341755.1:p.Gln282Arg
NM_001354827.1:c.1241A>G NP_001341756.1:p.Gln414Arg
NM_013261.4:c.1226A>G NP_037393.1:p.Gln409Arg
NR_148981.1:n.1753A>G
NR_148982.1:n.1826A>G
NR_148983.1:n.1979A>G
NR_148984.1:n.1377A>G
NR_148985.1:n.1891A>G
NR_148986.1:n.1896A>G
NR_148987.1:n.1978A>G
XM_005248131.5:c.1238A>G XP_005248188.1:p.Gln413Arg
XM_005248134.4:c.1241A>G XP_005248191.1:p.Gln414Arg
XM_011513769.2:c.1241A>G XP_011512071.1:p.Gln414Arg
XM_024453878.1:c.1241A>G XP_024309646.1:p.Gln414Arg
NM_013261.5:c.1226A>G MANE Select NP_037393.1:p.Gln409Arg
NM_001330751.2:c.1241A>G NP_001317680.1:p.Gln414Arg
NM_001330752.2:c.1190A>G NP_001317681.1:p.Gln397Arg
NM_001354825.2:c.1241A>G NP_001341754.1:p.Gln414Arg
NM_001354826.2:c.845A>G NP_001341755.1:p.Gln282Arg
NM_001354827.2:c.1241A>G NP_001341756.1:p.Gln414Arg
NR_148981.2:n.1829A>G
NR_148982.2:n.1902A>G
NR_148983.2:n.2055A>G
NR_148984.2:n.1347A>G
NR_148985.2:n.1967A>G
NR_148986.2:n.1972A>G
NR_148987.2:n.2054A>G
NM_001330753.2:c.845A>G NP_001317682.1:p.Gln282Arg