Canonical Allele Identifier: CA917148383
Gene: PPARGC1A HGNC NCBI

Linked Data

dbSNP Id: rs1560378185

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23824014_23824028del , CM000666.2:g.23824014_23824028del GRCh38
NC_000004.11:g.23825637_23825651del , CM000666.1:g.23825637_23825651del GRCh37
NC_000004.10:g.23434735_23434749del NCBI36
NG_028250.1:g.71050_71064del
NG_028250.2:g.653948_653962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.877+252_877+266del MANE Select ENSP00000264867.2:n.877+252_877+266del
ENST00000264867.6:c.877+252_877+266del ENSP00000264867.2:n.877+252_877+266del
ENST00000506055.5:c.*92+252_*92+266del ENSP00000423075.1:n.*92+252_*92+266del
ENST00000509642.5:n.970+252_970+266del
ENST00000509702.5:n.917+252_917+266del
ENST00000513205.5:c.877+252_877+266del ENSP00000421632.1:n.877+252_877+266del
ENST00000613098.4:c.496+252_496+266del ENSP00000481498.1:n.496+252_496+266del
ENST00000617484.4:c.865+252_865+266del ENSP00000477921.1:n.865+252_865+266del
NM_013261.3:c.877+252_877+266del NP_037393.1:n.877+252_877+266del
XM_005248130.2:c.892+252_892+266del XP_005248187.1:n.892+252_892+266del
XM_005248131.3:c.889+252_889+266del XP_005248188.1:n.889+252_889+266del
XM_005248132.1:c.868+252_868+266del XP_005248189.1:n.868+252_868+266del
XM_005248134.3:c.892+252_892+266del XP_005248191.1:n.892+252_892+266del
XM_011513764.1:c.877+252_877+266del XP_011512066.1:n.877+252_877+266del
XM_011513765.1:c.841+252_841+266del XP_011512067.1:n.841+252_841+266del
XM_011513766.1:c.772+252_772+266del XP_011512068.1:n.772+252_772+266del
XM_011513767.1:c.772+252_772+266del XP_011512069.1:n.772+252_772+266del
XM_011513768.1:c.772+252_772+266del XP_011512070.1:n.772+252_772+266del
XM_011513769.1:c.892+252_892+266del XP_011512071.1:n.892+252_892+266del
XM_011513770.1:c.496+252_496+266del XP_011512072.1:n.496+252_496+266del
XM_011513771.1:c.496+252_496+266del XP_011512073.1:n.496+252_496+266del
NM_001330751.1:c.892+252_892+266del NP_001317680.1:n.892+252_892+266del
NM_001330752.1:c.841+252_841+266del NP_001317681.1:n.841+252_841+266del
NM_001330753.1:c.496+252_496+266del NP_001317682.1:n.496+252_496+266del
NM_001354825.1:c.892+252_892+266del NP_001341754.1:n.892+252_892+266del
NM_001354826.1:c.496+252_496+266del NP_001341755.1:n.496+252_496+266del
NM_001354827.1:c.892+252_892+266del NP_001341756.1:n.892+252_892+266del
NM_013261.4:c.877+252_877+266del NP_037393.1:n.877+252_877+266del
NR_148981.1:n.1404+252_1404+266del
NR_148982.1:n.1477+252_1477+266del
NR_148983.1:n.1630+252_1630+266del
NR_148984.1:n.1028+252_1028+266del
NR_148985.1:n.1542+252_1542+266del
NR_148986.1:n.1343+252_1343+266del
NR_148987.1:n.1425+252_1425+266del
XM_005248131.5:c.889+252_889+266del XP_005248188.1:n.889+252_889+266del
XM_005248134.4:c.892+252_892+266del XP_005248191.1:n.892+252_892+266del
XM_011513769.2:c.892+252_892+266del XP_011512071.1:n.892+252_892+266del
XM_024453878.1:c.892+252_892+266del XP_024309646.1:n.892+252_892+266del
NM_013261.5:c.877+252_877+266del MANE Select NP_037393.1:n.877+252_877+266del
NM_001330751.2:c.892+252_892+266del NP_001317680.1:n.892+252_892+266del
NM_001330752.2:c.841+252_841+266del NP_001317681.1:n.841+252_841+266del
NM_001354825.2:c.892+252_892+266del NP_001341754.1:n.892+252_892+266del
NM_001354826.2:c.496+252_496+266del NP_001341755.1:n.496+252_496+266del
NM_001354827.2:c.892+252_892+266del NP_001341756.1:n.892+252_892+266del
NR_148981.2:n.1480+252_1480+266del
NR_148982.2:n.1553+252_1553+266del
NR_148983.2:n.1706+252_1706+266del
NR_148984.2:n.998+252_998+266del
NR_148985.2:n.1618+252_1618+266del
NR_148986.2:n.1419+252_1419+266del
NR_148987.2:n.1501+252_1501+266del
NM_001330753.2:c.496+252_496+266del NP_001317682.1:n.496+252_496+266del