Canonical Allele Identifier: CA1444588638
Gene: PPARGC1A HGNC NCBI

Linked Data

dbSNP Id: rs1729596841

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23853105_23853111del , CM000666.2:g.23853105_23853111del GRCh38
NC_000004.11:g.23854728_23854734del , CM000666.1:g.23854728_23854734del GRCh37
NC_000004.10:g.23463826_23463832del NCBI36
NG_028250.1:g.41969_41975del
NG_028250.2:g.624867_624873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.235-21358_235-21352del MANE Select ENSP00000264867.2:n.235-21358_235-21352del
ENST00000264867.6:c.235-21358_235-21352del ENSP00000264867.2:n.235-21358_235-21352del
ENST00000506055.5:c.235-21358_235-21352del ENSP00000423075.1:n.235-21358_235-21352del
ENST00000507342.5:n.315-21358_315-21352del
ENST00000508380.1:n.155-21358_155-21352del
ENST00000509642.5:n.328-21358_328-21352del
ENST00000509702.5:n.192-21358_192-21352del
ENST00000512169.1:n.328-21358_328-21352del
ENST00000513205.5:c.235-21358_235-21352del ENSP00000421632.1:n.235-21358_235-21352del
ENST00000612355.1:c.223-21358_223-21352del ENSP00000479729.1:n.223-21358_223-21352del
ENST00000613098.4:c.-147-21358_-147-21352del ENSP00000481498.1:n.-147-21358_-147-21352del
ENST00000617484.4:c.223-21358_223-21352del ENSP00000477921.1:n.223-21358_223-21352del
NM_013261.3:c.235-21358_235-21352del NP_037393.1:n.235-21358_235-21352del
XM_005248130.2:c.250-21358_250-21352del XP_005248187.1:n.250-21358_250-21352del
XM_005248131.3:c.247-21358_247-21352del XP_005248188.1:n.247-21358_247-21352del
XM_005248132.1:c.226-21358_226-21352del XP_005248189.1:n.226-21358_226-21352del
XM_005248134.3:c.250-21358_250-21352del XP_005248191.1:n.250-21358_250-21352del
XM_011513764.1:c.235-21358_235-21352del XP_011512066.1:n.235-21358_235-21352del
XM_011513765.1:c.199-21358_199-21352del XP_011512067.1:n.199-21358_199-21352del
XM_011513766.1:c.130-21358_130-21352del XP_011512068.1:n.130-21358_130-21352del
XM_011513767.1:c.130-21358_130-21352del XP_011512069.1:n.130-21358_130-21352del
XM_011513768.1:c.130-21358_130-21352del XP_011512070.1:n.130-21358_130-21352del
XM_011513769.1:c.250-21358_250-21352del XP_011512071.1:n.250-21358_250-21352del
XM_011513770.1:c.-147-21358_-147-21352del XP_011512072.1:n.-147-21358_-147-21352del
XM_011513771.1:c.-147-21358_-147-21352del XP_011512073.1:n.-147-21358_-147-21352del
NM_001330751.1:c.250-21358_250-21352del NP_001317680.1:n.250-21358_250-21352del
NM_001330752.1:c.199-21358_199-21352del NP_001317681.1:n.199-21358_199-21352del
NM_001330753.1:c.-147-21358_-147-21352del NP_001317682.1:n.-147-21358_-147-21352del
NM_001354825.1:c.250-21358_250-21352del NP_001341754.1:n.250-21358_250-21352del
NM_001354826.1:c.-147-21358_-147-21352del NP_001341755.1:n.-147-21358_-147-21352del
NM_001354827.1:c.250-21358_250-21352del NP_001341756.1:n.250-21358_250-21352del
NM_013261.4:c.235-21358_235-21352del NP_037393.1:n.235-21358_235-21352del
NR_148981.1:n.701-21358_701-21352del
NR_148982.1:n.804-21358_804-21352del
NR_148983.1:n.957-21358_957-21352del
NR_148984.1:n.355-21358_355-21352del
NR_148985.1:n.869-21358_869-21352del
NR_148986.1:n.701-21358_701-21352del
NR_148987.1:n.701-21358_701-21352del
XM_005248131.5:c.247-21358_247-21352del XP_005248188.1:n.247-21358_247-21352del
XM_005248134.4:c.250-21358_250-21352del XP_005248191.1:n.250-21358_250-21352del
XM_011513769.2:c.250-21358_250-21352del XP_011512071.1:n.250-21358_250-21352del
XM_024453878.1:c.250-21358_250-21352del XP_024309646.1:n.250-21358_250-21352del
NM_013261.5:c.235-21358_235-21352del MANE Select NP_037393.1:n.235-21358_235-21352del
NM_001330751.2:c.250-21358_250-21352del NP_001317680.1:n.250-21358_250-21352del
NM_001330752.2:c.199-21358_199-21352del NP_001317681.1:n.199-21358_199-21352del
NM_001354825.2:c.250-21358_250-21352del NP_001341754.1:n.250-21358_250-21352del
NM_001354826.2:c.-147-21358_-147-21352del NP_001341755.1:n.-147-21358_-147-21352del
NM_001354827.2:c.250-21358_250-21352del NP_001341756.1:n.250-21358_250-21352del
NR_148981.2:n.777-21358_777-21352del
NR_148982.2:n.880-21358_880-21352del
NR_148983.2:n.1033-21358_1033-21352del
NR_148984.2:n.325-21358_325-21352del
NR_148985.2:n.945-21358_945-21352del
NR_148986.2:n.777-21358_777-21352del
NR_148987.2:n.777-21358_777-21352del
NM_001330753.2:c.-147-21358_-147-21352del NP_001317682.1:n.-147-21358_-147-21352del