Canonical Allele Identifier: CA438896297

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814235-G-A
• MyVariant Identifiers: chr4:g.23815858G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814235G>A , CM000666.2:g.23814235G>A	GRCh38
NC_000004.11:g.23815858G>A , CM000666.1:g.23815858G>A	GRCh37
NC_000004.10:g.23424956G>A	NCBI36
NG_028250.1:g.80843C>T
NG_028250.2:g.663741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1248C>T MANE Select	ENSP00000264867.2:p.Ser416=
ENST00000264867.6:c.1248C>T	ENSP00000264867.2:p.Ser416=
ENST00000506055.5:c.*463C>T	ENSP00000423075.1:n.*463C>T
ENST00000509702.5:n.1288C>T
ENST00000613098.4:c.867C>T	ENSP00000481498.1:p.Ser289=
NM_013261.3:c.1248C>T	NP_037393.1:p.Ser416=
XM_005248130.2:c.1263C>T	XP_005248187.1:p.Ser421=
XM_005248131.3:c.1260C>T	XP_005248188.1:p.Ser420=
XM_005248132.1:c.1239C>T	XP_005248189.1:p.Ser413=
XM_005248134.3:c.1263C>T	XP_005248191.1:p.Ser421=
XM_011513764.1:c.1248C>T	XP_011512066.1:p.Ser416=
XM_011513765.1:c.1212C>T	XP_011512067.1:p.Ser404=
XM_011513766.1:c.1143C>T	XP_011512068.1:p.Ser381=
XM_011513767.1:c.1143C>T	XP_011512069.1:p.Ser381=
XM_011513768.1:c.1143C>T	XP_011512070.1:p.Ser381=
XM_011513769.1:c.1263C>T	XP_011512071.1:p.Ser421=
XM_011513770.1:c.867C>T	XP_011512072.1:p.Ser289=
XM_011513771.1:c.867C>T	XP_011512073.1:p.Ser289=
NM_001330751.1:c.1263C>T	NP_001317680.1:p.Ser421=
NM_001330752.1:c.1212C>T	NP_001317681.1:p.Ser404=
NM_001330753.1:c.867C>T	NP_001317682.1:p.Ser289=
NM_001354825.1:c.1263C>T	NP_001341754.1:p.Ser421=
NM_001354826.1:c.867C>T	NP_001341755.1:p.Ser289=
NM_001354827.1:c.1263C>T	NP_001341756.1:p.Ser421=
NM_013261.4:c.1248C>T	NP_037393.1:p.Ser416=
NR_148981.1:n.1775C>T
NR_148982.1:n.1848C>T
NR_148983.1:n.2001C>T
NR_148984.1:n.1399C>T
NR_148985.1:n.1913C>T
NR_148986.1:n.1918C>T
NR_148987.1:n.2000C>T
XM_005248131.5:c.1260C>T	XP_005248188.1:p.Ser420=
XM_005248134.4:c.1263C>T	XP_005248191.1:p.Ser421=
XM_011513769.2:c.1263C>T	XP_011512071.1:p.Ser421=
XM_024453878.1:c.1263C>T	XP_024309646.1:p.Ser421=
NM_013261.5:c.1248C>T MANE Select	NP_037393.1:p.Ser416=
NM_001330751.2:c.1263C>T	NP_001317680.1:p.Ser421=
NM_001330752.2:c.1212C>T	NP_001317681.1:p.Ser404=
NM_001354825.2:c.1263C>T	NP_001341754.1:p.Ser421=
NM_001354826.2:c.867C>T	NP_001341755.1:p.Ser289=
NM_001354827.2:c.1263C>T	NP_001341756.1:p.Ser421=
NR_148981.2:n.1851C>T
NR_148982.2:n.1924C>T
NR_148983.2:n.2077C>T
NR_148984.2:n.1369C>T
NR_148985.2:n.1989C>T
NR_148986.2:n.1994C>T
NR_148987.2:n.2076C>T
NM_001330753.2:c.867C>T	NP_001317682.1:p.Ser289=