Canonical Allele Identifier: CA1060212008

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1723478545
• gnomAD v3: 4-23824101-T-TTTA
• gnomAD v4: 4-23824101-T-TTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23824105_23824107dup , CM000666.2:g.23824105_23824107dup	GRCh38
NC_000004.11:g.23825728_23825730dup , CM000666.1:g.23825728_23825730dup	GRCh37
NC_000004.10:g.23434826_23434828dup	NCBI36
NG_028250.1:g.70974_70976dup
NG_028250.2:g.653872_653874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.877+176_877+178dup MANE Select	ENSP00000264867.2:n.877+176_877+178dup
ENST00000264867.6:c.877+176_877+178dup	ENSP00000264867.2:n.877+176_877+178dup
ENST00000506055.5:c.*92+176_*92+178dup	ENSP00000423075.1:n.*92+176_*92+178dup
ENST00000509642.5:n.970+176_970+178dup
ENST00000509702.5:n.917+176_917+178dup
ENST00000513205.5:c.877+176_877+178dup	ENSP00000421632.1:n.877+176_877+178dup
ENST00000613098.4:c.496+176_496+178dup	ENSP00000481498.1:n.496+176_496+178dup
ENST00000617484.4:c.865+176_865+178dup	ENSP00000477921.1:n.865+176_865+178dup
NM_013261.3:c.877+176_877+178dup	NP_037393.1:n.877+176_877+178dup
XM_005248130.2:c.892+176_892+178dup	XP_005248187.1:n.892+176_892+178dup
XM_005248131.3:c.889+176_889+178dup	XP_005248188.1:n.889+176_889+178dup
XM_005248132.1:c.868+176_868+178dup	XP_005248189.1:n.868+176_868+178dup
XM_005248134.3:c.892+176_892+178dup	XP_005248191.1:n.892+176_892+178dup
XM_011513764.1:c.877+176_877+178dup	XP_011512066.1:n.877+176_877+178dup
XM_011513765.1:c.841+176_841+178dup	XP_011512067.1:n.841+176_841+178dup
XM_011513766.1:c.772+176_772+178dup	XP_011512068.1:n.772+176_772+178dup
XM_011513767.1:c.772+176_772+178dup	XP_011512069.1:n.772+176_772+178dup
XM_011513768.1:c.772+176_772+178dup	XP_011512070.1:n.772+176_772+178dup
XM_011513769.1:c.892+176_892+178dup	XP_011512071.1:n.892+176_892+178dup
XM_011513770.1:c.496+176_496+178dup	XP_011512072.1:n.496+176_496+178dup
XM_011513771.1:c.496+176_496+178dup	XP_011512073.1:n.496+176_496+178dup
NM_001330751.1:c.892+176_892+178dup	NP_001317680.1:n.892+176_892+178dup
NM_001330752.1:c.841+176_841+178dup	NP_001317681.1:n.841+176_841+178dup
NM_001330753.1:c.496+176_496+178dup	NP_001317682.1:n.496+176_496+178dup
NM_001354825.1:c.892+176_892+178dup	NP_001341754.1:n.892+176_892+178dup
NM_001354826.1:c.496+176_496+178dup	NP_001341755.1:n.496+176_496+178dup
NM_001354827.1:c.892+176_892+178dup	NP_001341756.1:n.892+176_892+178dup
NM_013261.4:c.877+176_877+178dup	NP_037393.1:n.877+176_877+178dup
NR_148981.1:n.1404+176_1404+178dup
NR_148982.1:n.1477+176_1477+178dup
NR_148983.1:n.1630+176_1630+178dup
NR_148984.1:n.1028+176_1028+178dup
NR_148985.1:n.1542+176_1542+178dup
NR_148986.1:n.1343+176_1343+178dup
NR_148987.1:n.1425+176_1425+178dup
XM_005248131.5:c.889+176_889+178dup	XP_005248188.1:n.889+176_889+178dup
XM_005248134.4:c.892+176_892+178dup	XP_005248191.1:n.892+176_892+178dup
XM_011513769.2:c.892+176_892+178dup	XP_011512071.1:n.892+176_892+178dup
XM_024453878.1:c.892+176_892+178dup	XP_024309646.1:n.892+176_892+178dup
NM_013261.5:c.877+176_877+178dup MANE Select	NP_037393.1:n.877+176_877+178dup
NM_001330751.2:c.892+176_892+178dup	NP_001317680.1:n.892+176_892+178dup
NM_001330752.2:c.841+176_841+178dup	NP_001317681.1:n.841+176_841+178dup
NM_001354825.2:c.892+176_892+178dup	NP_001341754.1:n.892+176_892+178dup
NM_001354826.2:c.496+176_496+178dup	NP_001341755.1:n.496+176_496+178dup
NM_001354827.2:c.892+176_892+178dup	NP_001341756.1:n.892+176_892+178dup
NR_148981.2:n.1480+176_1480+178dup
NR_148982.2:n.1553+176_1553+178dup
NR_148983.2:n.1706+176_1706+178dup
NR_148984.2:n.998+176_998+178dup
NR_148985.2:n.1618+176_1618+178dup
NR_148986.2:n.1419+176_1419+178dup
NR_148987.2:n.1501+176_1501+178dup
NM_001330753.2:c.496+176_496+178dup	NP_001317682.1:n.496+176_496+178dup