Canonical Allele Identifier: CA1444632532

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1721504071

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814256_23814257del , CM000666.2:g.23814256_23814257del	GRCh38
NC_000004.11:g.23815879_23815880del , CM000666.1:g.23815879_23815880del	GRCh37
NC_000004.10:g.23424977_23424978del	NCBI36
NG_028250.1:g.80821_80822del
NG_028250.2:g.663719_663720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1226_1227del MANE Select	ENSP00000264867.2:p.Gln409ProfsTer4
ENST00000264867.6:c.1226_1227del	ENSP00000264867.2:p.Gln409ProfsTer4
ENST00000506055.5:c.*441_*442del	ENSP00000423075.1:n.*441_*442del
ENST00000509702.5:n.1266_1267del
ENST00000613098.4:c.845_846del	ENSP00000481498.1:p.Gln282ProfsTer4
NM_013261.3:c.1226_1227del	NP_037393.1:p.Gln409ProfsTer4
XM_005248130.2:c.1241_1242del	XP_005248187.1:p.Gln414ProfsTer4
XM_005248131.3:c.1238_1239del	XP_005248188.1:p.Gln413ProfsTer4
XM_005248132.1:c.1217_1218del	XP_005248189.1:p.Gln406ProfsTer4
XM_005248134.3:c.1241_1242del	XP_005248191.1:p.Gln414ProfsTer4
XM_011513764.1:c.1226_1227del	XP_011512066.1:p.Gln409ProfsTer4
XM_011513765.1:c.1190_1191del	XP_011512067.1:p.Gln397ProfsTer4
XM_011513766.1:c.1121_1122del	XP_011512068.1:p.Gln374ProfsTer4
XM_011513767.1:c.1121_1122del	XP_011512069.1:p.Gln374ProfsTer4
XM_011513768.1:c.1121_1122del	XP_011512070.1:p.Gln374ProfsTer4
XM_011513769.1:c.1241_1242del	XP_011512071.1:p.Gln414ProfsTer4
XM_011513770.1:c.845_846del	XP_011512072.1:p.Gln282ProfsTer4
XM_011513771.1:c.845_846del	XP_011512073.1:p.Gln282ProfsTer4
NM_001330751.1:c.1241_1242del	NP_001317680.1:p.Gln414ProfsTer4
NM_001330752.1:c.1190_1191del	NP_001317681.1:p.Gln397ProfsTer4
NM_001330753.1:c.845_846del	NP_001317682.1:p.Gln282ProfsTer4
NM_001354825.1:c.1241_1242del	NP_001341754.1:p.Gln414ProfsTer4
NM_001354826.1:c.845_846del	NP_001341755.1:p.Gln282ProfsTer4
NM_001354827.1:c.1241_1242del	NP_001341756.1:p.Gln414ProfsTer4
NM_013261.4:c.1226_1227del	NP_037393.1:p.Gln409ProfsTer4
NR_148981.1:n.1753_1754del
NR_148982.1:n.1826_1827del
NR_148983.1:n.1979_1980del
NR_148984.1:n.1377_1378del
NR_148985.1:n.1891_1892del
NR_148986.1:n.1896_1897del
NR_148987.1:n.1978_1979del
XM_005248131.5:c.1238_1239del	XP_005248188.1:p.Gln413ProfsTer4
XM_005248134.4:c.1241_1242del	XP_005248191.1:p.Gln414ProfsTer4
XM_011513769.2:c.1241_1242del	XP_011512071.1:p.Gln414ProfsTer4
XM_024453878.1:c.1241_1242del	XP_024309646.1:p.Gln414ProfsTer4
NM_013261.5:c.1226_1227del MANE Select	NP_037393.1:p.Gln409ProfsTer4
NM_001330751.2:c.1241_1242del	NP_001317680.1:p.Gln414ProfsTer4
NM_001330752.2:c.1190_1191del	NP_001317681.1:p.Gln397ProfsTer4
NM_001354825.2:c.1241_1242del	NP_001341754.1:p.Gln414ProfsTer4
NM_001354826.2:c.845_846del	NP_001341755.1:p.Gln282ProfsTer4
NM_001354827.2:c.1241_1242del	NP_001341756.1:p.Gln414ProfsTer4
NR_148981.2:n.1829_1830del
NR_148982.2:n.1902_1903del
NR_148983.2:n.2055_2056del
NR_148984.2:n.1347_1348del
NR_148985.2:n.1967_1968del
NR_148986.2:n.1972_1973del
NR_148987.2:n.2054_2055del
NM_001330753.2:c.845_846del	NP_001317682.1:p.Gln282ProfsTer4