Canonical Allele Identifier: CA438896061

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814049-T-A
• MyVariant Identifiers: chr4:g.23815672T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814049T>A , CM000666.2:g.23814049T>A	GRCh38
NC_000004.11:g.23815672T>A , CM000666.1:g.23815672T>A	GRCh37
NC_000004.10:g.23424770T>A	NCBI36
NG_028250.1:g.81029A>T
NG_028250.2:g.663927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1434A>T MANE Select	ENSP00000264867.2:p.Ala478=
ENST00000264867.6:c.1434A>T	ENSP00000264867.2:p.Ala478=
ENST00000506055.5:c.*649A>T	ENSP00000423075.1:n.*649A>T
ENST00000509702.5:n.1474A>T
ENST00000613098.4:c.1053A>T	ENSP00000481498.1:p.Ala351=
NM_013261.3:c.1434A>T	NP_037393.1:p.Ala478=
XM_005248130.2:c.1449A>T	XP_005248187.1:p.Ala483=
XM_005248131.3:c.1446A>T	XP_005248188.1:p.Ala482=
XM_005248132.1:c.1425A>T	XP_005248189.1:p.Ala475=
XM_005248134.3:c.1449A>T	XP_005248191.1:p.Ala483=
XM_011513764.1:c.1434A>T	XP_011512066.1:p.Ala478=
XM_011513765.1:c.1398A>T	XP_011512067.1:p.Ala466=
XM_011513766.1:c.1329A>T	XP_011512068.1:p.Ala443=
XM_011513767.1:c.1329A>T	XP_011512069.1:p.Ala443=
XM_011513768.1:c.1329A>T	XP_011512070.1:p.Ala443=
XM_011513769.1:c.1449A>T	XP_011512071.1:p.Ala483=
XM_011513770.1:c.1053A>T	XP_011512072.1:p.Ala351=
XM_011513771.1:c.1053A>T	XP_011512073.1:p.Ala351=
NM_001330751.1:c.1449A>T	NP_001317680.1:p.Ala483=
NM_001330752.1:c.1398A>T	NP_001317681.1:p.Ala466=
NM_001330753.1:c.1053A>T	NP_001317682.1:p.Ala351=
NM_001354825.1:c.1449A>T	NP_001341754.1:p.Ala483=
NM_001354826.1:c.1053A>T	NP_001341755.1:p.Ala351=
NM_001354827.1:c.1449A>T	NP_001341756.1:p.Ala483=
NM_013261.4:c.1434A>T	NP_037393.1:p.Ala478=
NR_148981.1:n.1961A>T
NR_148982.1:n.2034A>T
NR_148983.1:n.2187A>T
NR_148984.1:n.1585A>T
NR_148985.1:n.2099A>T
NR_148986.1:n.2104A>T
NR_148987.1:n.2186A>T
XM_005248131.5:c.1446A>T	XP_005248188.1:p.Ala482=
XM_005248134.4:c.1449A>T	XP_005248191.1:p.Ala483=
XM_011513769.2:c.1449A>T	XP_011512071.1:p.Ala483=
XM_024453878.1:c.1449A>T	XP_024309646.1:p.Ala483=
NM_013261.5:c.1434A>T MANE Select	NP_037393.1:p.Ala478=
NM_001330751.2:c.1449A>T	NP_001317680.1:p.Ala483=
NM_001330752.2:c.1398A>T	NP_001317681.1:p.Ala466=
NM_001354825.2:c.1449A>T	NP_001341754.1:p.Ala483=
NM_001354826.2:c.1053A>T	NP_001341755.1:p.Ala351=
NM_001354827.2:c.1449A>T	NP_001341756.1:p.Ala483=
NR_148981.2:n.2037A>T
NR_148982.2:n.2110A>T
NR_148983.2:n.2263A>T
NR_148984.2:n.1555A>T
NR_148985.2:n.2175A>T
NR_148986.2:n.2180A>T
NR_148987.2:n.2262A>T
NM_001330753.2:c.1053A>T	NP_001317682.1:p.Ala351=