Canonical Allele Identifier: CA356524770

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814240-C-T
• MyVariant Identifiers: chr4:g.23815863C>T (hg19) ; chr4:g.23814240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814240C>T , CM000666.2:g.23814240C>T	GRCh38
NC_000004.11:g.23815863C>T , CM000666.1:g.23815863C>T	GRCh37
NC_000004.10:g.23424961C>T	NCBI36
NG_028250.1:g.80838G>A
NG_028250.2:g.663736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1243G>A MANE Select	ENSP00000264867.2:p.Val415Ile
ENST00000264867.6:c.1243G>A	ENSP00000264867.2:p.Val415Ile
ENST00000506055.5:c.*458G>A	ENSP00000423075.1:n.*458G>A
ENST00000509702.5:n.1283G>A
ENST00000613098.4:c.862G>A	ENSP00000481498.1:p.Val288Ile
NM_013261.3:c.1243G>A	NP_037393.1:p.Val415Ile
XM_005248130.2:c.1258G>A	XP_005248187.1:p.Val420Ile
XM_005248131.3:c.1255G>A	XP_005248188.1:p.Val419Ile
XM_005248132.1:c.1234G>A	XP_005248189.1:p.Val412Ile
XM_005248134.3:c.1258G>A	XP_005248191.1:p.Val420Ile
XM_011513764.1:c.1243G>A	XP_011512066.1:p.Val415Ile
XM_011513765.1:c.1207G>A	XP_011512067.1:p.Val403Ile
XM_011513766.1:c.1138G>A	XP_011512068.1:p.Val380Ile
XM_011513767.1:c.1138G>A	XP_011512069.1:p.Val380Ile
XM_011513768.1:c.1138G>A	XP_011512070.1:p.Val380Ile
XM_011513769.1:c.1258G>A	XP_011512071.1:p.Val420Ile
XM_011513770.1:c.862G>A	XP_011512072.1:p.Val288Ile
XM_011513771.1:c.862G>A	XP_011512073.1:p.Val288Ile
NM_001330751.1:c.1258G>A	NP_001317680.1:p.Val420Ile
NM_001330752.1:c.1207G>A	NP_001317681.1:p.Val403Ile
NM_001330753.1:c.862G>A	NP_001317682.1:p.Val288Ile
NM_001354825.1:c.1258G>A	NP_001341754.1:p.Val420Ile
NM_001354826.1:c.862G>A	NP_001341755.1:p.Val288Ile
NM_001354827.1:c.1258G>A	NP_001341756.1:p.Val420Ile
NM_013261.4:c.1243G>A	NP_037393.1:p.Val415Ile
NR_148981.1:n.1770G>A
NR_148982.1:n.1843G>A
NR_148983.1:n.1996G>A
NR_148984.1:n.1394G>A
NR_148985.1:n.1908G>A
NR_148986.1:n.1913G>A
NR_148987.1:n.1995G>A
XM_005248131.5:c.1255G>A	XP_005248188.1:p.Val419Ile
XM_005248134.4:c.1258G>A	XP_005248191.1:p.Val420Ile
XM_011513769.2:c.1258G>A	XP_011512071.1:p.Val420Ile
XM_024453878.1:c.1258G>A	XP_024309646.1:p.Val420Ile
NM_013261.5:c.1243G>A MANE Select	NP_037393.1:p.Val415Ile
NM_001330751.2:c.1258G>A	NP_001317680.1:p.Val420Ile
NM_001330752.2:c.1207G>A	NP_001317681.1:p.Val403Ile
NM_001354825.2:c.1258G>A	NP_001341754.1:p.Val420Ile
NM_001354826.2:c.862G>A	NP_001341755.1:p.Val288Ile
NM_001354827.2:c.1258G>A	NP_001341756.1:p.Val420Ile
NR_148981.2:n.1846G>A
NR_148982.2:n.1919G>A
NR_148983.2:n.2072G>A
NR_148984.2:n.1364G>A
NR_148985.2:n.1984G>A
NR_148986.2:n.1989G>A
NR_148987.2:n.2071G>A
NM_001330753.2:c.862G>A	NP_001317682.1:p.Val288Ile