Canonical Allele Identifier: CA356524366
Gene: PPARGC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814090G>A , CM000666.2:g.23814090G>A GRCh38
NC_000004.11:g.23815713G>A , CM000666.1:g.23815713G>A GRCh37
NC_000004.10:g.23424811G>A NCBI36
NG_028250.1:g.80988C>T
NG_028250.2:g.663886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1393C>T MANE Select ENSP00000264867.2:p.His465Tyr
ENST00000264867.6:c.1393C>T ENSP00000264867.2:p.His465Tyr
ENST00000506055.5:c.*608C>T ENSP00000423075.1:n.*608C>T
ENST00000509702.5:n.1433C>T
ENST00000613098.4:c.1012C>T ENSP00000481498.1:p.His338Tyr
NM_013261.3:c.1393C>T NP_037393.1:p.His465Tyr
XM_005248130.2:c.1408C>T XP_005248187.1:p.His470Tyr
XM_005248131.3:c.1405C>T XP_005248188.1:p.His469Tyr
XM_005248132.1:c.1384C>T XP_005248189.1:p.His462Tyr
XM_005248134.3:c.1408C>T XP_005248191.1:p.His470Tyr
XM_011513764.1:c.1393C>T XP_011512066.1:p.His465Tyr
XM_011513765.1:c.1357C>T XP_011512067.1:p.His453Tyr
XM_011513766.1:c.1288C>T XP_011512068.1:p.His430Tyr
XM_011513767.1:c.1288C>T XP_011512069.1:p.His430Tyr
XM_011513768.1:c.1288C>T XP_011512070.1:p.His430Tyr
XM_011513769.1:c.1408C>T XP_011512071.1:p.His470Tyr
XM_011513770.1:c.1012C>T XP_011512072.1:p.His338Tyr
XM_011513771.1:c.1012C>T XP_011512073.1:p.His338Tyr
NM_001330751.1:c.1408C>T NP_001317680.1:p.His470Tyr
NM_001330752.1:c.1357C>T NP_001317681.1:p.His453Tyr
NM_001330753.1:c.1012C>T NP_001317682.1:p.His338Tyr
NM_001354825.1:c.1408C>T NP_001341754.1:p.His470Tyr
NM_001354826.1:c.1012C>T NP_001341755.1:p.His338Tyr
NM_001354827.1:c.1408C>T NP_001341756.1:p.His470Tyr
NM_013261.4:c.1393C>T NP_037393.1:p.His465Tyr
NR_148981.1:n.1920C>T
NR_148982.1:n.1993C>T
NR_148983.1:n.2146C>T
NR_148984.1:n.1544C>T
NR_148985.1:n.2058C>T
NR_148986.1:n.2063C>T
NR_148987.1:n.2145C>T
XM_005248131.5:c.1405C>T XP_005248188.1:p.His469Tyr
XM_005248134.4:c.1408C>T XP_005248191.1:p.His470Tyr
XM_011513769.2:c.1408C>T XP_011512071.1:p.His470Tyr
XM_024453878.1:c.1408C>T XP_024309646.1:p.His470Tyr
NM_013261.5:c.1393C>T MANE Select NP_037393.1:p.His465Tyr
NM_001330751.2:c.1408C>T NP_001317680.1:p.His470Tyr
NM_001330752.2:c.1357C>T NP_001317681.1:p.His453Tyr
NM_001354825.2:c.1408C>T NP_001341754.1:p.His470Tyr
NM_001354826.2:c.1012C>T NP_001341755.1:p.His338Tyr
NM_001354827.2:c.1408C>T NP_001341756.1:p.His470Tyr
NR_148981.2:n.1996C>T
NR_148982.2:n.2069C>T
NR_148983.2:n.2222C>T
NR_148984.2:n.1514C>T
NR_148985.2:n.2134C>T
NR_148986.2:n.2139C>T
NR_148987.2:n.2221C>T
NM_001330753.2:c.1012C>T NP_001317682.1:p.His338Tyr