Canonical Allele Identifier: CA356524766
Gene: PPARGC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814239A>T , CM000666.2:g.23814239A>T GRCh38
NC_000004.11:g.23815862A>T , CM000666.1:g.23815862A>T GRCh37
NC_000004.10:g.23424960A>T NCBI36
NG_028250.1:g.80839T>A
NG_028250.2:g.663737T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1244T>A MANE Select ENSP00000264867.2:p.Val415Asp
ENST00000264867.6:c.1244T>A ENSP00000264867.2:p.Val415Asp
ENST00000506055.5:c.*459T>A ENSP00000423075.1:n.*459T>A
ENST00000509702.5:n.1284T>A
ENST00000613098.4:c.863T>A ENSP00000481498.1:p.Val288Asp
NM_013261.3:c.1244T>A NP_037393.1:p.Val415Asp
XM_005248130.2:c.1259T>A XP_005248187.1:p.Val420Asp
XM_005248131.3:c.1256T>A XP_005248188.1:p.Val419Asp
XM_005248132.1:c.1235T>A XP_005248189.1:p.Val412Asp
XM_005248134.3:c.1259T>A XP_005248191.1:p.Val420Asp
XM_011513764.1:c.1244T>A XP_011512066.1:p.Val415Asp
XM_011513765.1:c.1208T>A XP_011512067.1:p.Val403Asp
XM_011513766.1:c.1139T>A XP_011512068.1:p.Val380Asp
XM_011513767.1:c.1139T>A XP_011512069.1:p.Val380Asp
XM_011513768.1:c.1139T>A XP_011512070.1:p.Val380Asp
XM_011513769.1:c.1259T>A XP_011512071.1:p.Val420Asp
XM_011513770.1:c.863T>A XP_011512072.1:p.Val288Asp
XM_011513771.1:c.863T>A XP_011512073.1:p.Val288Asp
NM_001330751.1:c.1259T>A NP_001317680.1:p.Val420Asp
NM_001330752.1:c.1208T>A NP_001317681.1:p.Val403Asp
NM_001330753.1:c.863T>A NP_001317682.1:p.Val288Asp
NM_001354825.1:c.1259T>A NP_001341754.1:p.Val420Asp
NM_001354826.1:c.863T>A NP_001341755.1:p.Val288Asp
NM_001354827.1:c.1259T>A NP_001341756.1:p.Val420Asp
NM_013261.4:c.1244T>A NP_037393.1:p.Val415Asp
NR_148981.1:n.1771T>A
NR_148982.1:n.1844T>A
NR_148983.1:n.1997T>A
NR_148984.1:n.1395T>A
NR_148985.1:n.1909T>A
NR_148986.1:n.1914T>A
NR_148987.1:n.1996T>A
XM_005248131.5:c.1256T>A XP_005248188.1:p.Val419Asp
XM_005248134.4:c.1259T>A XP_005248191.1:p.Val420Asp
XM_011513769.2:c.1259T>A XP_011512071.1:p.Val420Asp
XM_024453878.1:c.1259T>A XP_024309646.1:p.Val420Asp
NM_013261.5:c.1244T>A MANE Select NP_037393.1:p.Val415Asp
NM_001330751.2:c.1259T>A NP_001317680.1:p.Val420Asp
NM_001330752.2:c.1208T>A NP_001317681.1:p.Val403Asp
NM_001354825.2:c.1259T>A NP_001341754.1:p.Val420Asp
NM_001354826.2:c.863T>A NP_001341755.1:p.Val288Asp
NM_001354827.2:c.1259T>A NP_001341756.1:p.Val420Asp
NR_148981.2:n.1847T>A
NR_148982.2:n.1920T>A
NR_148983.2:n.2073T>A
NR_148984.2:n.1365T>A
NR_148985.2:n.1985T>A
NR_148986.2:n.1990T>A
NR_148987.2:n.2072T>A
NM_001330753.2:c.863T>A NP_001317682.1:p.Val288Asp