Canonical Allele Identifier: CA438896261

Gene: PPARGC1A

Linked Data

• COSMIC: COSM392508
• MyVariant Identifiers: chr4:g.23815828del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814206del , CM000666.2:g.23814206del	GRCh38
NC_000004.11:g.23815829del , CM000666.1:g.23815829del	GRCh37
NC_000004.10:g.23424927del	NCBI36
NG_028250.1:g.80873del
NG_028250.2:g.663771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1278del MANE Select	ENSP00000264867.2:p.Thr427GlnfsTer8
ENST00000264867.6:c.1278del	ENSP00000264867.2:p.Thr427GlnfsTer8
ENST00000506055.5:c.*493del	ENSP00000423075.1:n.*493del
ENST00000509702.5:n.1318del
ENST00000613098.4:c.897del	ENSP00000481498.1:p.Thr300GlnfsTer8
NM_013261.3:c.1278del	NP_037393.1:p.Thr427GlnfsTer8
XM_005248130.2:c.1293del	XP_005248187.1:p.Thr432GlnfsTer8
XM_005248131.3:c.1290del	XP_005248188.1:p.Thr431GlnfsTer8
XM_005248132.1:c.1269del	XP_005248189.1:p.Thr424GlnfsTer8
XM_005248134.3:c.1293del	XP_005248191.1:p.Thr432GlnfsTer8
XM_011513764.1:c.1278del	XP_011512066.1:p.Thr427GlnfsTer8
XM_011513765.1:c.1242del	XP_011512067.1:p.Thr415GlnfsTer8
XM_011513766.1:c.1173del	XP_011512068.1:p.Thr392GlnfsTer8
XM_011513767.1:c.1173del	XP_011512069.1:p.Thr392GlnfsTer8
XM_011513768.1:c.1173del	XP_011512070.1:p.Thr392GlnfsTer8
XM_011513769.1:c.1293del	XP_011512071.1:p.Thr432GlnfsTer8
XM_011513770.1:c.897del	XP_011512072.1:p.Thr300GlnfsTer8
XM_011513771.1:c.897del	XP_011512073.1:p.Thr300GlnfsTer8
NM_001330751.1:c.1293del	NP_001317680.1:p.Thr432GlnfsTer8
NM_001330752.1:c.1242del	NP_001317681.1:p.Thr415GlnfsTer8
NM_001330753.1:c.897del	NP_001317682.1:p.Thr300GlnfsTer8
NM_001354825.1:c.1293del	NP_001341754.1:p.Thr432GlnfsTer8
NM_001354826.1:c.897del	NP_001341755.1:p.Thr300GlnfsTer8
NM_001354827.1:c.1293del	NP_001341756.1:p.Thr432GlnfsTer8
NM_013261.4:c.1278del	NP_037393.1:p.Thr427GlnfsTer8
NR_148981.1:n.1805del
NR_148982.1:n.1878del
NR_148983.1:n.2031del
NR_148984.1:n.1429del
NR_148985.1:n.1943del
NR_148986.1:n.1948del
NR_148987.1:n.2030del
XM_005248131.5:c.1290del	XP_005248188.1:p.Thr431GlnfsTer8
XM_005248134.4:c.1293del	XP_005248191.1:p.Thr432GlnfsTer8
XM_011513769.2:c.1293del	XP_011512071.1:p.Thr432GlnfsTer8
XM_024453878.1:c.1293del	XP_024309646.1:p.Thr432GlnfsTer8
NM_013261.5:c.1278del MANE Select	NP_037393.1:p.Thr427GlnfsTer8
NM_001330751.2:c.1293del	NP_001317680.1:p.Thr432GlnfsTer8
NM_001330752.2:c.1242del	NP_001317681.1:p.Thr415GlnfsTer8
NM_001354825.2:c.1293del	NP_001341754.1:p.Thr432GlnfsTer8
NM_001354826.2:c.897del	NP_001341755.1:p.Thr300GlnfsTer8
NM_001354827.2:c.1293del	NP_001341756.1:p.Thr432GlnfsTer8
NR_148981.2:n.1881del
NR_148982.2:n.1954del
NR_148983.2:n.2107del
NR_148984.2:n.1399del
NR_148985.2:n.2019del
NR_148986.2:n.2024del
NR_148987.2:n.2106del
NM_001330753.2:c.897del	NP_001317682.1:p.Thr300GlnfsTer8