Canonical Allele Identifier: CA94263250

Gene: PPARGC1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24374210C>T , CM000666.2:g.24374210C>T	GRCh38
NC_000004.11:g.24375833C>T , CM000666.1:g.24375833C>T	GRCh37
NC_000004.10:g.23984931C>T	NCBI36
NG_028250.2:g.103766G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_005248130.2:c.-100+98165G>A	XP_005248187.1:n.-100+98165G>A
XM_011513765.1:c.-48+98165G>A	XP_011512067.1:n.-48+98165G>A
NM_001330751.1:c.-165+98165G>A	NP_001317680.1:n.-165+98165G>A
NM_001330752.1:c.-48+98165G>A	NP_001317681.1:n.-48+98165G>A
NM_001354825.1:c.-100+98165G>A	NP_001341754.1:n.-100+98165G>A
NM_001354826.1:c.-497+98165G>A	NP_001341755.1:n.-497+98165G>A
NM_001354827.1:c.-100+98165G>A	NP_001341756.1:n.-100+98165G>A
NR_148981.1:n.455+98165G>A
NR_148982.1:n.455+98165G>A
NR_148983.1:n.455+98165G>A
NR_148985.1:n.455+98165G>A
NR_148986.1:n.455+98165G>A
NR_148987.1:n.455+98165G>A
NM_001330751.2:c.-165+98165G>A	NP_001317680.1:n.-165+98165G>A
NM_001330752.2:c.-48+98165G>A	NP_001317681.1:n.-48+98165G>A
NM_001354825.2:c.-100+98165G>A	NP_001341754.1:n.-100+98165G>A
NM_001354826.2:c.-497+98165G>A	NP_001341755.1:n.-497+98165G>A
NM_001354827.2:c.-100+98165G>A	NP_001341756.1:n.-100+98165G>A
NR_148981.2:n.531+98165G>A
NR_148982.2:n.531+98165G>A
NR_148983.2:n.531+98165G>A
NR_148985.2:n.531+98165G>A
NR_148986.2:n.531+98165G>A
NR_148987.2:n.531+98165G>A