Canonical Allele Identifier: CA2670198107

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814060-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814065dup , CM000666.2:g.23814065dup	GRCh38
NC_000004.11:g.23815688dup , CM000666.1:g.23815688dup	GRCh37
NC_000004.10:g.23424786dup	NCBI36
NG_028250.1:g.81017dup
NG_028250.2:g.663915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1422dup MANE Select	ENSP00000264867.2:p.Asp475Ter
ENST00000264867.6:c.1422dup	ENSP00000264867.2:p.Asp475Ter
ENST00000506055.5:c.*637dup	ENSP00000423075.1:n.*637dup
ENST00000509702.5:n.1462dup
ENST00000613098.4:c.1041dup	ENSP00000481498.1:p.Asp348Ter
NM_013261.3:c.1422dup	NP_037393.1:p.Asp475Ter
XM_005248130.2:c.1437dup	XP_005248187.1:p.Asp480Ter
XM_005248131.3:c.1434dup	XP_005248188.1:p.Asp479Ter
XM_005248132.1:c.1413dup	XP_005248189.1:p.Asp472Ter
XM_005248134.3:c.1437dup	XP_005248191.1:p.Asp480Ter
XM_011513764.1:c.1422dup	XP_011512066.1:p.Asp475Ter
XM_011513765.1:c.1386dup	XP_011512067.1:p.Asp463Ter
XM_011513766.1:c.1317dup	XP_011512068.1:p.Asp440Ter
XM_011513767.1:c.1317dup	XP_011512069.1:p.Asp440Ter
XM_011513768.1:c.1317dup	XP_011512070.1:p.Asp440Ter
XM_011513769.1:c.1437dup	XP_011512071.1:p.Asp480Ter
XM_011513770.1:c.1041dup	XP_011512072.1:p.Asp348Ter
XM_011513771.1:c.1041dup	XP_011512073.1:p.Asp348Ter
NM_001330751.1:c.1437dup	NP_001317680.1:p.Asp480Ter
NM_001330752.1:c.1386dup	NP_001317681.1:p.Asp463Ter
NM_001330753.1:c.1041dup	NP_001317682.1:p.Asp348Ter
NM_001354825.1:c.1437dup	NP_001341754.1:p.Asp480Ter
NM_001354826.1:c.1041dup	NP_001341755.1:p.Asp348Ter
NM_001354827.1:c.1437dup	NP_001341756.1:p.Asp480Ter
NM_013261.4:c.1422dup	NP_037393.1:p.Asp475Ter
NR_148981.1:n.1949dup
NR_148982.1:n.2022dup
NR_148983.1:n.2175dup
NR_148984.1:n.1573dup
NR_148985.1:n.2087dup
NR_148986.1:n.2092dup
NR_148987.1:n.2174dup
XM_005248131.5:c.1434dup	XP_005248188.1:p.Asp479Ter
XM_005248134.4:c.1437dup	XP_005248191.1:p.Asp480Ter
XM_011513769.2:c.1437dup	XP_011512071.1:p.Asp480Ter
XM_024453878.1:c.1437dup	XP_024309646.1:p.Asp480Ter
NM_013261.5:c.1422dup MANE Select	NP_037393.1:p.Asp475Ter
NM_001330751.2:c.1437dup	NP_001317680.1:p.Asp480Ter
NM_001330752.2:c.1386dup	NP_001317681.1:p.Asp463Ter
NM_001354825.2:c.1437dup	NP_001341754.1:p.Asp480Ter
NM_001354826.2:c.1041dup	NP_001341755.1:p.Asp348Ter
NM_001354827.2:c.1437dup	NP_001341756.1:p.Asp480Ter
NR_148981.2:n.2025dup
NR_148982.2:n.2098dup
NR_148983.2:n.2251dup
NR_148984.2:n.1543dup
NR_148985.2:n.2163dup
NR_148986.2:n.2168dup
NR_148987.2:n.2250dup
NM_001330753.2:c.1041dup	NP_001317682.1:p.Asp348Ter