Canonical Allele Identifier: CA2670198163

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814219-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814223dup , CM000666.2:g.23814223dup	GRCh38
NC_000004.11:g.23815846dup , CM000666.1:g.23815846dup	GRCh37
NC_000004.10:g.23424944dup	NCBI36
NG_028250.1:g.80858dup
NG_028250.2:g.663756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1263dup MANE Select	ENSP00000264867.2:p.Gln422AlafsTer?
ENST00000264867.6:c.1263dup	ENSP00000264867.2:p.Gln422AlafsTer?
ENST00000506055.5:c.*478dup	ENSP00000423075.1:n.*478dup
ENST00000509702.5:n.1303dup
ENST00000613098.4:c.882dup	ENSP00000481498.1:p.Gln295AlafsTer?
NM_013261.3:c.1263dup	NP_037393.1:p.Gln422AlafsTer?
XM_005248130.2:c.1278dup	XP_005248187.1:p.Gln427AlafsTer?
XM_005248131.3:c.1275dup	XP_005248188.1:p.Gln426AlafsTer?
XM_005248132.1:c.1254dup	XP_005248189.1:p.Gln419AlafsTer?
XM_005248134.3:c.1278dup	XP_005248191.1:p.Gln427AlafsTer?
XM_011513764.1:c.1263dup	XP_011512066.1:p.Gln422AlafsTer?
XM_011513765.1:c.1227dup	XP_011512067.1:p.Gln410AlafsTer?
XM_011513766.1:c.1158dup	XP_011512068.1:p.Gln387AlafsTer?
XM_011513767.1:c.1158dup	XP_011512069.1:p.Gln387AlafsTer?
XM_011513768.1:c.1158dup	XP_011512070.1:p.Gln387AlafsTer?
XM_011513769.1:c.1278dup	XP_011512071.1:p.Gln427AlafsTer?
XM_011513770.1:c.882dup	XP_011512072.1:p.Gln295AlafsTer?
XM_011513771.1:c.882dup	XP_011512073.1:p.Gln295AlafsTer?
NM_001330751.1:c.1278dup	NP_001317680.1:p.Gln427AlafsTer?
NM_001330752.1:c.1227dup	NP_001317681.1:p.Gln410AlafsTer?
NM_001330753.1:c.882dup	NP_001317682.1:p.Gln295AlafsTer?
NM_001354825.1:c.1278dup	NP_001341754.1:p.Gln427AlafsTer?
NM_001354826.1:c.882dup	NP_001341755.1:p.Gln295AlafsTer?
NM_001354827.1:c.1278dup	NP_001341756.1:p.Gln427AlafsTer?
NM_013261.4:c.1263dup	NP_037393.1:p.Gln422AlafsTer?
NR_148981.1:n.1790dup
NR_148982.1:n.1863dup
NR_148983.1:n.2016dup
NR_148984.1:n.1414dup
NR_148985.1:n.1928dup
NR_148986.1:n.1933dup
NR_148987.1:n.2015dup
XM_005248131.5:c.1275dup	XP_005248188.1:p.Gln426AlafsTer?
XM_005248134.4:c.1278dup	XP_005248191.1:p.Gln427AlafsTer?
XM_011513769.2:c.1278dup	XP_011512071.1:p.Gln427AlafsTer?
XM_024453878.1:c.1278dup	XP_024309646.1:p.Gln427AlafsTer?
NM_013261.5:c.1263dup MANE Select	NP_037393.1:p.Gln422AlafsTer?
NM_001330751.2:c.1278dup	NP_001317680.1:p.Gln427AlafsTer?
NM_001330752.2:c.1227dup	NP_001317681.1:p.Gln410AlafsTer?
NM_001354825.2:c.1278dup	NP_001341754.1:p.Gln427AlafsTer?
NM_001354826.2:c.882dup	NP_001341755.1:p.Gln295AlafsTer?
NM_001354827.2:c.1278dup	NP_001341756.1:p.Gln427AlafsTer?
NR_148981.2:n.1866dup
NR_148982.2:n.1939dup
NR_148983.2:n.2092dup
NR_148984.2:n.1384dup
NR_148985.2:n.2004dup
NR_148986.2:n.2009dup
NR_148987.2:n.2091dup
NM_001330753.2:c.882dup	NP_001317682.1:p.Gln295AlafsTer?