Canonical Allele Identifier: CA2578056732

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814241dup , CM000666.2:g.23814241dup	GRCh38
NC_000004.11:g.23815864dup , CM000666.1:g.23815864dup	GRCh37
NC_000004.10:g.23424962dup	NCBI36
NG_028250.1:g.80837dup
NG_028250.2:g.663735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1242dup MANE Select	ENSP00000264867.2:p.Val415CysfsTer4
ENST00000264867.6:c.1242dup	ENSP00000264867.2:p.Val415CysfsTer4
ENST00000506055.5:c.*457dup	ENSP00000423075.1:n.*457dup
ENST00000509702.5:n.1282dup
ENST00000613098.4:c.861dup	ENSP00000481498.1:p.Val288CysfsTer4
NM_013261.3:c.1242dup	NP_037393.1:p.Val415CysfsTer4
XM_005248130.2:c.1257dup	XP_005248187.1:p.Val420CysfsTer4
XM_005248131.3:c.1254dup	XP_005248188.1:p.Val419CysfsTer4
XM_005248132.1:c.1233dup	XP_005248189.1:p.Val412CysfsTer4
XM_005248134.3:c.1257dup	XP_005248191.1:p.Val420CysfsTer4
XM_011513764.1:c.1242dup	XP_011512066.1:p.Val415CysfsTer4
XM_011513765.1:c.1206dup	XP_011512067.1:p.Val403CysfsTer4
XM_011513766.1:c.1137dup	XP_011512068.1:p.Val380CysfsTer4
XM_011513767.1:c.1137dup	XP_011512069.1:p.Val380CysfsTer4
XM_011513768.1:c.1137dup	XP_011512070.1:p.Val380CysfsTer4
XM_011513769.1:c.1257dup	XP_011512071.1:p.Val420CysfsTer4
XM_011513770.1:c.861dup	XP_011512072.1:p.Val288CysfsTer4
XM_011513771.1:c.861dup	XP_011512073.1:p.Val288CysfsTer4
NM_001330751.1:c.1257dup	NP_001317680.1:p.Val420CysfsTer4
NM_001330752.1:c.1206dup	NP_001317681.1:p.Val403CysfsTer4
NM_001330753.1:c.861dup	NP_001317682.1:p.Val288CysfsTer4
NM_001354825.1:c.1257dup	NP_001341754.1:p.Val420CysfsTer4
NM_001354826.1:c.861dup	NP_001341755.1:p.Val288CysfsTer4
NM_001354827.1:c.1257dup	NP_001341756.1:p.Val420CysfsTer4
NM_013261.4:c.1242dup	NP_037393.1:p.Val415CysfsTer4
NR_148981.1:n.1769dup
NR_148982.1:n.1842dup
NR_148983.1:n.1995dup
NR_148984.1:n.1393dup
NR_148985.1:n.1907dup
NR_148986.1:n.1912dup
NR_148987.1:n.1994dup
XM_005248131.5:c.1254dup	XP_005248188.1:p.Val419CysfsTer4
XM_005248134.4:c.1257dup	XP_005248191.1:p.Val420CysfsTer4
XM_011513769.2:c.1257dup	XP_011512071.1:p.Val420CysfsTer4
XM_024453878.1:c.1257dup	XP_024309646.1:p.Val420CysfsTer4
NM_013261.5:c.1242dup MANE Select	NP_037393.1:p.Val415CysfsTer4
NM_001330751.2:c.1257dup	NP_001317680.1:p.Val420CysfsTer4
NM_001330752.2:c.1206dup	NP_001317681.1:p.Val403CysfsTer4
NM_001354825.2:c.1257dup	NP_001341754.1:p.Val420CysfsTer4
NM_001354826.2:c.861dup	NP_001341755.1:p.Val288CysfsTer4
NM_001354827.2:c.1257dup	NP_001341756.1:p.Val420CysfsTer4
NR_148981.2:n.1845dup
NR_148982.2:n.1918dup
NR_148983.2:n.2071dup
NR_148984.2:n.1363dup
NR_148985.2:n.1983dup
NR_148986.2:n.1988dup
NR_148987.2:n.2070dup
NM_001330753.2:c.861dup	NP_001317682.1:p.Val288CysfsTer4