Canonical Allele Identifier: CA550424036

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs3217669
• gnomAD v2: 4-23825731-G-GTT
• gnomAD v3: 4-23824108-G-GTT
• gnomAD v4: 4-23824108-G-GTT
• MyVariant Identifiers: chr4:g.23825732_23825733insTT (hg19) ; chr4:g.23825731_23825732insTT (hg19) ; chr4:g.23824109_23824110insTT (hg38) ; chr4:g.23824108_23824109insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23824119_23824120dup , CM000666.2:g.23824119_23824120dup	GRCh38
NC_000004.11:g.23825742_23825743dup , CM000666.1:g.23825742_23825743dup	GRCh37
NC_000004.10:g.23434840_23434841dup	NCBI36
NG_028250.1:g.70968_70969dup
NG_028250.2:g.653866_653867dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264867.7:c.877+170_877+171dup MANE Select	ENSP00000264867.2:n.877+170_877+171dup
ENST00000264867.6:c.877+170_877+171dup	ENSP00000264867.2:n.877+170_877+171dup
ENST00000506055.5:c.*92+170_*92+171dup	ENSP00000423075.1:n.*92+170_*92+171dup
ENST00000509642.5:n.970+170_970+171dup
ENST00000509702.5:n.917+170_917+171dup
ENST00000513205.5:c.877+170_877+171dup	ENSP00000421632.1:n.877+170_877+171dup
ENST00000613098.4:c.496+170_496+171dup	ENSP00000481498.1:n.496+170_496+171dup
ENST00000617484.4:c.865+170_865+171dup	ENSP00000477921.1:n.865+170_865+171dup
NM_013261.3:c.877+170_877+171dup	NP_037393.1:n.877+170_877+171dup
XM_005248130.2:c.892+170_892+171dup	XP_005248187.1:n.892+170_892+171dup
XM_005248131.3:c.889+170_889+171dup	XP_005248188.1:n.889+170_889+171dup
XM_005248132.1:c.868+170_868+171dup	XP_005248189.1:n.868+170_868+171dup
XM_005248134.3:c.892+170_892+171dup	XP_005248191.1:n.892+170_892+171dup
XM_011513764.1:c.877+170_877+171dup	XP_011512066.1:n.877+170_877+171dup
XM_011513765.1:c.841+170_841+171dup	XP_011512067.1:n.841+170_841+171dup
XM_011513766.1:c.772+170_772+171dup	XP_011512068.1:n.772+170_772+171dup
XM_011513767.1:c.772+170_772+171dup	XP_011512069.1:n.772+170_772+171dup
XM_011513768.1:c.772+170_772+171dup	XP_011512070.1:n.772+170_772+171dup
XM_011513769.1:c.892+170_892+171dup	XP_011512071.1:n.892+170_892+171dup
XM_011513770.1:c.496+170_496+171dup	XP_011512072.1:n.496+170_496+171dup
XM_011513771.1:c.496+170_496+171dup	XP_011512073.1:n.496+170_496+171dup
NM_001330751.1:c.892+170_892+171dup	NP_001317680.1:n.892+170_892+171dup
NM_001330752.1:c.841+170_841+171dup	NP_001317681.1:n.841+170_841+171dup
NM_001330753.1:c.496+170_496+171dup	NP_001317682.1:n.496+170_496+171dup
NM_001354825.1:c.892+170_892+171dup	NP_001341754.1:n.892+170_892+171dup
NM_001354826.1:c.496+170_496+171dup	NP_001341755.1:n.496+170_496+171dup
NM_001354827.1:c.892+170_892+171dup	NP_001341756.1:n.892+170_892+171dup
NM_013261.4:c.877+170_877+171dup	NP_037393.1:n.877+170_877+171dup
NR_148981.1:n.1404+170_1404+171dup
NR_148982.1:n.1477+170_1477+171dup
NR_148983.1:n.1630+170_1630+171dup
NR_148984.1:n.1028+170_1028+171dup
NR_148985.1:n.1542+170_1542+171dup
NR_148986.1:n.1343+170_1343+171dup
NR_148987.1:n.1425+170_1425+171dup
XM_005248131.5:c.889+170_889+171dup	XP_005248188.1:n.889+170_889+171dup
XM_005248134.4:c.892+170_892+171dup	XP_005248191.1:n.892+170_892+171dup
XM_011513769.2:c.892+170_892+171dup	XP_011512071.1:n.892+170_892+171dup
XM_024453878.1:c.892+170_892+171dup	XP_024309646.1:n.892+170_892+171dup
NM_013261.5:c.877+170_877+171dup MANE Select	NP_037393.1:n.877+170_877+171dup
NM_001330751.2:c.892+170_892+171dup	NP_001317680.1:n.892+170_892+171dup
NM_001330752.2:c.841+170_841+171dup	NP_001317681.1:n.841+170_841+171dup
NM_001354825.2:c.892+170_892+171dup	NP_001341754.1:n.892+170_892+171dup
NM_001354826.2:c.496+170_496+171dup	NP_001341755.1:n.496+170_496+171dup
NM_001354827.2:c.892+170_892+171dup	NP_001341756.1:n.892+170_892+171dup
NR_148981.2:n.1480+170_1480+171dup
NR_148982.2:n.1553+170_1553+171dup
NR_148983.2:n.1706+170_1706+171dup
NR_148984.2:n.998+170_998+171dup
NR_148985.2:n.1618+170_1618+171dup
NR_148986.2:n.1419+170_1419+171dup
NR_148987.2:n.1501+170_1501+171dup
NM_001330753.2:c.496+170_496+171dup	NP_001317682.1:n.496+170_496+171dup