Canonical Allele Identifier: CA2875254

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs776701526
• ExAC: 4:23815663 G / A
• gnomAD v2: 4-23815663-G-A
• gnomAD v3: 4-23814040-G-A
• gnomAD v4: 4-23814040-G-A
• MyVariant Identifiers: chr4:g.23815663G>A (hg19) ; chr4:g.23814040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814040G>A , CM000666.2:g.23814040G>A	GRCh38
NC_000004.11:g.23815663G>A , CM000666.1:g.23815663G>A	GRCh37
NC_000004.10:g.23424761G>A	NCBI36
NG_028250.1:g.81038C>T
NG_028250.2:g.663936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1443C>T MANE Select	ENSP00000264867.2:p.Thr481=
ENST00000264867.6:c.1443C>T	ENSP00000264867.2:p.Thr481=
ENST00000506055.5:c.*658C>T	ENSP00000423075.1:n.*658C>T
ENST00000509702.5:n.1483C>T
ENST00000613098.4:c.1062C>T	ENSP00000481498.1:p.Thr354=
NM_013261.3:c.1443C>T	NP_037393.1:p.Thr481=
XM_005248130.2:c.1458C>T	XP_005248187.1:p.Thr486=
XM_005248131.3:c.1455C>T	XP_005248188.1:p.Thr485=
XM_005248132.1:c.1434C>T	XP_005248189.1:p.Thr478=
XM_005248134.3:c.1458C>T	XP_005248191.1:p.Thr486=
XM_011513764.1:c.1443C>T	XP_011512066.1:p.Thr481=
XM_011513765.1:c.1407C>T	XP_011512067.1:p.Thr469=
XM_011513766.1:c.1338C>T	XP_011512068.1:p.Thr446=
XM_011513767.1:c.1338C>T	XP_011512069.1:p.Thr446=
XM_011513768.1:c.1338C>T	XP_011512070.1:p.Thr446=
XM_011513769.1:c.1458C>T	XP_011512071.1:p.Thr486=
XM_011513770.1:c.1062C>T	XP_011512072.1:p.Thr354=
XM_011513771.1:c.1062C>T	XP_011512073.1:p.Thr354=
NM_001330751.1:c.1458C>T	NP_001317680.1:p.Thr486=
NM_001330752.1:c.1407C>T	NP_001317681.1:p.Thr469=
NM_001330753.1:c.1062C>T	NP_001317682.1:p.Thr354=
NM_001354825.1:c.1458C>T	NP_001341754.1:p.Thr486=
NM_001354826.1:c.1062C>T	NP_001341755.1:p.Thr354=
NM_001354827.1:c.1458C>T	NP_001341756.1:p.Thr486=
NM_013261.4:c.1443C>T	NP_037393.1:p.Thr481=
NR_148981.1:n.1970C>T
NR_148982.1:n.2043C>T
NR_148983.1:n.2196C>T
NR_148984.1:n.1594C>T
NR_148985.1:n.2108C>T
NR_148986.1:n.2113C>T
NR_148987.1:n.2195C>T
XM_005248131.5:c.1455C>T	XP_005248188.1:p.Thr485=
XM_005248134.4:c.1458C>T	XP_005248191.1:p.Thr486=
XM_011513769.2:c.1458C>T	XP_011512071.1:p.Thr486=
XM_024453878.1:c.1458C>T	XP_024309646.1:p.Thr486=
NM_013261.5:c.1443C>T MANE Select	NP_037393.1:p.Thr481=
NM_001330751.2:c.1458C>T	NP_001317680.1:p.Thr486=
NM_001330752.2:c.1407C>T	NP_001317681.1:p.Thr469=
NM_001354825.2:c.1458C>T	NP_001341754.1:p.Thr486=
NM_001354826.2:c.1062C>T	NP_001341755.1:p.Thr354=
NM_001354827.2:c.1458C>T	NP_001341756.1:p.Thr486=
NR_148981.2:n.2046C>T
NR_148982.2:n.2119C>T
NR_148983.2:n.2272C>T
NR_148984.2:n.1564C>T
NR_148985.2:n.2184C>T
NR_148986.2:n.2189C>T
NR_148987.2:n.2271C>T
NM_001330753.2:c.1062C>T	NP_001317682.1:p.Thr354=