Canonical Allele Identifier: CA2562376778

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814204_23814205insTCTA , CM000666.2:g.23814204_23814205insTCTA	GRCh38
NC_000004.11:g.23815827_23815828insTCTA , CM000666.1:g.23815827_23815828insTCTA	GRCh37
NC_000004.10:g.23424925_23424926insTCTA	NCBI36
NG_028250.1:g.80873_80874insTAGA
NG_028250.2:g.663771_663772insTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1278_1279insTAGA MANE Select	ENSP00000264867.2:p.Thr427Ter
ENST00000264867.6:c.1278_1279insTAGA	ENSP00000264867.2:p.Thr427Ter
ENST00000506055.5:c.*493_*494insTAGA	ENSP00000423075.1:n.*493_*494insTAGA
ENST00000509702.5:n.1318_1319insTAGA
ENST00000613098.4:c.897_898insTAGA	ENSP00000481498.1:p.Thr300Ter
NM_013261.3:c.1278_1279insTAGA	NP_037393.1:p.Thr427Ter
XM_005248130.2:c.1293_1294insTAGA	XP_005248187.1:p.Thr432Ter
XM_005248131.3:c.1290_1291insTAGA	XP_005248188.1:p.Thr431Ter
XM_005248132.1:c.1269_1270insTAGA	XP_005248189.1:p.Thr424Ter
XM_005248134.3:c.1293_1294insTAGA	XP_005248191.1:p.Thr432Ter
XM_011513764.1:c.1278_1279insTAGA	XP_011512066.1:p.Thr427Ter
XM_011513765.1:c.1242_1243insTAGA	XP_011512067.1:p.Thr415Ter
XM_011513766.1:c.1173_1174insTAGA	XP_011512068.1:p.Thr392Ter
XM_011513767.1:c.1173_1174insTAGA	XP_011512069.1:p.Thr392Ter
XM_011513768.1:c.1173_1174insTAGA	XP_011512070.1:p.Thr392Ter
XM_011513769.1:c.1293_1294insTAGA	XP_011512071.1:p.Thr432Ter
XM_011513770.1:c.897_898insTAGA	XP_011512072.1:p.Thr300Ter
XM_011513771.1:c.897_898insTAGA	XP_011512073.1:p.Thr300Ter
NM_001330751.1:c.1293_1294insTAGA	NP_001317680.1:p.Thr432Ter
NM_001330752.1:c.1242_1243insTAGA	NP_001317681.1:p.Thr415Ter
NM_001330753.1:c.897_898insTAGA	NP_001317682.1:p.Thr300Ter
NM_001354825.1:c.1293_1294insTAGA	NP_001341754.1:p.Thr432Ter
NM_001354826.1:c.897_898insTAGA	NP_001341755.1:p.Thr300Ter
NM_001354827.1:c.1293_1294insTAGA	NP_001341756.1:p.Thr432Ter
NM_013261.4:c.1278_1279insTAGA	NP_037393.1:p.Thr427Ter
NR_148981.1:n.1805_1806insTAGA
NR_148982.1:n.1878_1879insTAGA
NR_148983.1:n.2031_2032insTAGA
NR_148984.1:n.1429_1430insTAGA
NR_148985.1:n.1943_1944insTAGA
NR_148986.1:n.1948_1949insTAGA
NR_148987.1:n.2030_2031insTAGA
XM_005248131.5:c.1290_1291insTAGA	XP_005248188.1:p.Thr431Ter
XM_005248134.4:c.1293_1294insTAGA	XP_005248191.1:p.Thr432Ter
XM_011513769.2:c.1293_1294insTAGA	XP_011512071.1:p.Thr432Ter
XM_024453878.1:c.1293_1294insTAGA	XP_024309646.1:p.Thr432Ter
NM_013261.5:c.1278_1279insTAGA MANE Select	NP_037393.1:p.Thr427Ter
NM_001330751.2:c.1293_1294insTAGA	NP_001317680.1:p.Thr432Ter
NM_001330752.2:c.1242_1243insTAGA	NP_001317681.1:p.Thr415Ter
NM_001354825.2:c.1293_1294insTAGA	NP_001341754.1:p.Thr432Ter
NM_001354826.2:c.897_898insTAGA	NP_001341755.1:p.Thr300Ter
NM_001354827.2:c.1293_1294insTAGA	NP_001341756.1:p.Thr432Ter
NR_148981.2:n.1881_1882insTAGA
NR_148982.2:n.1954_1955insTAGA
NR_148983.2:n.2107_2108insTAGA
NR_148984.2:n.1399_1400insTAGA
NR_148985.2:n.2019_2020insTAGA
NR_148986.2:n.2024_2025insTAGA
NR_148987.2:n.2106_2107insTAGA
NM_001330753.2:c.897_898insTAGA	NP_001317682.1:p.Thr300Ter