Canonical Allele Identifier: CA2875285

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs777635529
• ExAC: 4:23815890 C / T
• gnomAD v2: 4-23815890-C-T
• gnomAD v4: 4-23814267-C-T
• MyVariant Identifiers: chr4:g.23815890C>T (hg19) ; chr4:g.23814267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814267C>T , CM000666.2:g.23814267C>T	GRCh38
NC_000004.11:g.23815890C>T , CM000666.1:g.23815890C>T	GRCh37
NC_000004.10:g.23424988C>T	NCBI36
NG_028250.1:g.80811G>A
NG_028250.2:g.663709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1216G>A MANE Select	ENSP00000264867.2:p.Asp406Asn
ENST00000264867.6:c.1216G>A	ENSP00000264867.2:p.Asp406Asn
ENST00000506055.5:c.*431G>A	ENSP00000423075.1:n.*431G>A
ENST00000509702.5:n.1256G>A
ENST00000613098.4:c.835G>A	ENSP00000481498.1:p.Asp279Asn
NM_013261.3:c.1216G>A	NP_037393.1:p.Asp406Asn
XM_005248130.2:c.1231G>A	XP_005248187.1:p.Asp411Asn
XM_005248131.3:c.1228G>A	XP_005248188.1:p.Asp410Asn
XM_005248132.1:c.1207G>A	XP_005248189.1:p.Asp403Asn
XM_005248134.3:c.1231G>A	XP_005248191.1:p.Asp411Asn
XM_011513764.1:c.1216G>A	XP_011512066.1:p.Asp406Asn
XM_011513765.1:c.1180G>A	XP_011512067.1:p.Asp394Asn
XM_011513766.1:c.1111G>A	XP_011512068.1:p.Asp371Asn
XM_011513767.1:c.1111G>A	XP_011512069.1:p.Asp371Asn
XM_011513768.1:c.1111G>A	XP_011512070.1:p.Asp371Asn
XM_011513769.1:c.1231G>A	XP_011512071.1:p.Asp411Asn
XM_011513770.1:c.835G>A	XP_011512072.1:p.Asp279Asn
XM_011513771.1:c.835G>A	XP_011512073.1:p.Asp279Asn
NM_001330751.1:c.1231G>A	NP_001317680.1:p.Asp411Asn
NM_001330752.1:c.1180G>A	NP_001317681.1:p.Asp394Asn
NM_001330753.1:c.835G>A	NP_001317682.1:p.Asp279Asn
NM_001354825.1:c.1231G>A	NP_001341754.1:p.Asp411Asn
NM_001354826.1:c.835G>A	NP_001341755.1:p.Asp279Asn
NM_001354827.1:c.1231G>A	NP_001341756.1:p.Asp411Asn
NM_013261.4:c.1216G>A	NP_037393.1:p.Asp406Asn
NR_148981.1:n.1743G>A
NR_148982.1:n.1816G>A
NR_148983.1:n.1969G>A
NR_148984.1:n.1367G>A
NR_148985.1:n.1881G>A
NR_148986.1:n.1886G>A
NR_148987.1:n.1968G>A
XM_005248131.5:c.1228G>A	XP_005248188.1:p.Asp410Asn
XM_005248134.4:c.1231G>A	XP_005248191.1:p.Asp411Asn
XM_011513769.2:c.1231G>A	XP_011512071.1:p.Asp411Asn
XM_024453878.1:c.1231G>A	XP_024309646.1:p.Asp411Asn
NM_013261.5:c.1216G>A MANE Select	NP_037393.1:p.Asp406Asn
NM_001330751.2:c.1231G>A	NP_001317680.1:p.Asp411Asn
NM_001330752.2:c.1180G>A	NP_001317681.1:p.Asp394Asn
NM_001354825.2:c.1231G>A	NP_001341754.1:p.Asp411Asn
NM_001354826.2:c.835G>A	NP_001341755.1:p.Asp279Asn
NM_001354827.2:c.1231G>A	NP_001341756.1:p.Asp411Asn
NR_148981.2:n.1819G>A
NR_148982.2:n.1892G>A
NR_148983.2:n.2045G>A
NR_148984.2:n.1337G>A
NR_148985.2:n.1957G>A
NR_148986.2:n.1962G>A
NR_148987.2:n.2044G>A
NM_001330753.2:c.835G>A	NP_001317682.1:p.Asp279Asn