Canonical Allele Identifier: CA356524565
Gene: PPARGC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814177C>T , CM000666.2:g.23814177C>T GRCh38
NC_000004.11:g.23815800C>T , CM000666.1:g.23815800C>T GRCh37
NC_000004.10:g.23424898C>T NCBI36
NG_028250.1:g.80901G>A
NG_028250.2:g.663799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1306G>A MANE Select ENSP00000264867.2:p.Glu436Lys
ENST00000264867.6:c.1306G>A ENSP00000264867.2:p.Glu436Lys
ENST00000506055.5:c.*521G>A ENSP00000423075.1:n.*521G>A
ENST00000509702.5:n.1346G>A
ENST00000613098.4:c.925G>A ENSP00000481498.1:p.Glu309Lys
NM_013261.3:c.1306G>A NP_037393.1:p.Glu436Lys
XM_005248130.2:c.1321G>A XP_005248187.1:p.Glu441Lys
XM_005248131.3:c.1318G>A XP_005248188.1:p.Glu440Lys
XM_005248132.1:c.1297G>A XP_005248189.1:p.Glu433Lys
XM_005248134.3:c.1321G>A XP_005248191.1:p.Glu441Lys
XM_011513764.1:c.1306G>A XP_011512066.1:p.Glu436Lys
XM_011513765.1:c.1270G>A XP_011512067.1:p.Glu424Lys
XM_011513766.1:c.1201G>A XP_011512068.1:p.Glu401Lys
XM_011513767.1:c.1201G>A XP_011512069.1:p.Glu401Lys
XM_011513768.1:c.1201G>A XP_011512070.1:p.Glu401Lys
XM_011513769.1:c.1321G>A XP_011512071.1:p.Glu441Lys
XM_011513770.1:c.925G>A XP_011512072.1:p.Glu309Lys
XM_011513771.1:c.925G>A XP_011512073.1:p.Glu309Lys
NM_001330751.1:c.1321G>A NP_001317680.1:p.Glu441Lys
NM_001330752.1:c.1270G>A NP_001317681.1:p.Glu424Lys
NM_001330753.1:c.925G>A NP_001317682.1:p.Glu309Lys
NM_001354825.1:c.1321G>A NP_001341754.1:p.Glu441Lys
NM_001354826.1:c.925G>A NP_001341755.1:p.Glu309Lys
NM_001354827.1:c.1321G>A NP_001341756.1:p.Glu441Lys
NM_013261.4:c.1306G>A NP_037393.1:p.Glu436Lys
NR_148981.1:n.1833G>A
NR_148982.1:n.1906G>A
NR_148983.1:n.2059G>A
NR_148984.1:n.1457G>A
NR_148985.1:n.1971G>A
NR_148986.1:n.1976G>A
NR_148987.1:n.2058G>A
XM_005248131.5:c.1318G>A XP_005248188.1:p.Glu440Lys
XM_005248134.4:c.1321G>A XP_005248191.1:p.Glu441Lys
XM_011513769.2:c.1321G>A XP_011512071.1:p.Glu441Lys
XM_024453878.1:c.1321G>A XP_024309646.1:p.Glu441Lys
NM_013261.5:c.1306G>A MANE Select NP_037393.1:p.Glu436Lys
NM_001330751.2:c.1321G>A NP_001317680.1:p.Glu441Lys
NM_001330752.2:c.1270G>A NP_001317681.1:p.Glu424Lys
NM_001354825.2:c.1321G>A NP_001341754.1:p.Glu441Lys
NM_001354826.2:c.925G>A NP_001341755.1:p.Glu309Lys
NM_001354827.2:c.1321G>A NP_001341756.1:p.Glu441Lys
NR_148981.2:n.1909G>A
NR_148982.2:n.1982G>A
NR_148983.2:n.2135G>A
NR_148984.2:n.1427G>A
NR_148985.2:n.2047G>A
NR_148986.2:n.2052G>A
NR_148987.2:n.2134G>A
NM_001330753.2:c.925G>A NP_001317682.1:p.Glu309Lys