Canonical Allele Identifier: CA356524044

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23813948-T-C
• MyVariant Identifiers: chr4:g.23815571T>C (hg19) ; chr4:g.23813948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23813948T>C , CM000666.2:g.23813948T>C	GRCh38
NC_000004.11:g.23815571T>C , CM000666.1:g.23815571T>C	GRCh37
NC_000004.10:g.23424669T>C	NCBI36
NG_028250.1:g.81130A>G
NG_028250.2:g.664028A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264867.7:c.1535A>G MANE Select	ENSP00000264867.2:p.Asp512Gly
ENST00000264867.6:c.1535A>G	ENSP00000264867.2:p.Asp512Gly
ENST00000506055.5:c.*750A>G	ENSP00000423075.1:n.*750A>G
ENST00000509702.5:n.1575A>G
ENST00000613098.4:c.1154A>G	ENSP00000481498.1:p.Asp385Gly
NM_013261.3:c.1535A>G	NP_037393.1:p.Asp512Gly
XM_005248130.2:c.1550A>G	XP_005248187.1:p.Asp517Gly
XM_005248131.3:c.1547A>G	XP_005248188.1:p.Asp516Gly
XM_005248132.1:c.1526A>G	XP_005248189.1:p.Asp509Gly
XM_005248134.3:c.1550A>G	XP_005248191.1:p.Asp517Gly
XM_011513764.1:c.1535A>G	XP_011512066.1:p.Asp512Gly
XM_011513765.1:c.1499A>G	XP_011512067.1:p.Asp500Gly
XM_011513766.1:c.1430A>G	XP_011512068.1:p.Asp477Gly
XM_011513767.1:c.1430A>G	XP_011512069.1:p.Asp477Gly
XM_011513768.1:c.1430A>G	XP_011512070.1:p.Asp477Gly
XM_011513769.1:c.1550A>G	XP_011512071.1:p.Asp517Gly
XM_011513770.1:c.1154A>G	XP_011512072.1:p.Asp385Gly
XM_011513771.1:c.1154A>G	XP_011512073.1:p.Asp385Gly
NM_001330751.1:c.1550A>G	NP_001317680.1:p.Asp517Gly
NM_001330752.1:c.1499A>G	NP_001317681.1:p.Asp500Gly
NM_001330753.1:c.1154A>G	NP_001317682.1:p.Asp385Gly
NM_001354825.1:c.1550A>G	NP_001341754.1:p.Asp517Gly
NM_001354826.1:c.1154A>G	NP_001341755.1:p.Asp385Gly
NM_001354827.1:c.1550A>G	NP_001341756.1:p.Asp517Gly
NM_013261.4:c.1535A>G	NP_037393.1:p.Asp512Gly
NR_148981.1:n.2062A>G
NR_148982.1:n.2135A>G
NR_148983.1:n.2288A>G
NR_148984.1:n.1686A>G
NR_148985.1:n.2200A>G
NR_148986.1:n.2205A>G
NR_148987.1:n.2287A>G
XM_005248131.5:c.1547A>G	XP_005248188.1:p.Asp516Gly
XM_005248134.4:c.1550A>G	XP_005248191.1:p.Asp517Gly
XM_011513769.2:c.1550A>G	XP_011512071.1:p.Asp517Gly
XM_024453878.1:c.1550A>G	XP_024309646.1:p.Asp517Gly
NM_013261.5:c.1535A>G MANE Select	NP_037393.1:p.Asp512Gly
NM_001330751.2:c.1550A>G	NP_001317680.1:p.Asp517Gly
NM_001330752.2:c.1499A>G	NP_001317681.1:p.Asp500Gly
NM_001354825.2:c.1550A>G	NP_001341754.1:p.Asp517Gly
NM_001354826.2:c.1154A>G	NP_001341755.1:p.Asp385Gly
NM_001354827.2:c.1550A>G	NP_001341756.1:p.Asp517Gly
NR_148981.2:n.2138A>G
NR_148982.2:n.2211A>G
NR_148983.2:n.2364A>G
NR_148984.2:n.1656A>G
NR_148985.2:n.2276A>G
NR_148986.2:n.2281A>G
NR_148987.2:n.2363A>G
NM_001330753.2:c.1154A>G	NP_001317682.1:p.Asp385Gly