Canonical Allele Identifier: CA2875651

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23889937G>A , CM000666.2:g.23889937G>A	GRCh38
NC_000004.11:g.23891560G>A , CM000666.1:g.23891560G>A	GRCh37
NC_000004.10:g.23500658G>A	NCBI36
NG_028250.1:g.5141C>T
NG_028250.2:g.588039C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013261.5:c.21C>T MANE Select	NP_037393.1:p.Asn7=
ENST00000264867.7:c.21C>T MANE Select	ENSP00000264867.2:p.Asn7=
NM_001330751.1:c.70-5006C>T	NP_001317680.1:n.70-5006C>T
NM_001330751.2:c.70-5006C>T	NP_001317680.1:n.70-5006C>T
NM_001330752.1:c.19-5006C>T	NP_001317681.1:n.19-5006C>T
NM_001330752.2:c.19-5006C>T	NP_001317681.1:n.19-5006C>T
NM_001354825.1:c.70-5006C>T	NP_001341754.1:n.70-5006C>T
NM_001354825.2:c.70-5006C>T	NP_001341754.1:n.70-5006C>T
NM_001354826.1:c.-431-5006C>T	NP_001341755.1:n.-431-5006C>T
NM_001354826.2:c.-431-5006C>T	NP_001341755.1:n.-431-5006C>T
NM_001354827.1:c.70-5006C>T	NP_001341756.1:n.70-5006C>T
NM_001354827.2:c.70-5006C>T	NP_001341756.1:n.70-5006C>T
NM_001354828.1:c.21C>T	NP_001341757.1:p.Asn7=
NM_001354828.2:c.21C>T	NP_001341757.1:p.Asn7=
NM_013261.3:c.21C>T	NP_037393.1:p.Asn7=
NM_013261.4:c.21C>T	NP_037393.1:p.Asn7=
NR_148981.1:n.521-5006C>T
NR_148981.2:n.597-5006C>T
NR_148982.1:n.624-5006C>T
NR_148982.2:n.700-5006C>T
NR_148983.1:n.521-5006C>T
NR_148983.2:n.597-5006C>T
NR_148984.1:n.141C>T
NR_148984.2:n.111C>T
NR_148985.1:n.689-5006C>T
NR_148985.2:n.765-5006C>T
NR_148986.1:n.521-5006C>T
NR_148986.2:n.597-5006C>T
NR_148987.1:n.521-5006C>T
NR_148987.2:n.597-5006C>T
ENST00000264867.6:c.21C>T	ENSP00000264867.2:p.Asn7=
ENST00000506055.5:c.21C>T	ENSP00000423075.1:p.Asn7=
ENST00000507342.5:n.134+195C>T
ENST00000507380.1:c.21C>T	ENSP00000424181.1:p.Asn7=
ENST00000513205.5:c.21C>T	ENSP00000421632.1:p.Asn7=
ENST00000514494.1:n.97-5006C>T
ENST00000515534.5:n.93C>T
ENST00000612355.1:c.9C>T	ENSP00000479729.1:p.Asn3=
ENST00000617484.4:c.9C>T	ENSP00000477921.1:p.Asn3=
XM_005248130.2:c.70-5006C>T	XP_005248187.1:n.70-5006C>T
XM_005248132.1:c.46-5006C>T	XP_005248189.1:n.46-5006C>T
XM_005248134.3:c.70-5006C>T	XP_005248191.1:n.70-5006C>T
XM_005248134.4:c.70-5006C>T	XP_005248191.1:n.70-5006C>T
XM_011513765.1:c.19-5006C>T	XP_011512067.1:n.19-5006C>T
XM_011513766.1:c.-203-5006C>T	XP_011512068.1:n.-203-5006C>T
XM_011513769.1:c.70-5006C>T	XP_011512071.1:n.70-5006C>T
XM_011513769.2:c.70-5006C>T	XP_011512071.1:n.70-5006C>T
XM_024453878.1:c.70-5006C>T	XP_024309646.1:n.70-5006C>T