Canonical Allele Identifier: CA550430221

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1560488051
• gnomAD v2: 4-23874832-A-AAAAG
• gnomAD v3: 4-23873209-A-AAAAG
• gnomAD v4: 4-23873209-A-AAAAG
• MyVariant Identifiers: chr4:g.23874833_23874840delinsAAAGTAAAAAAT (hg19) ; chr4:g.23873210_23873217delinsAAAGTAAAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873209_23873210insAAAG , CM000666.2:g.23873209_23873210insAAAG	GRCh38
NC_000004.11:g.23874832_23874833insAAAG , CM000666.1:g.23874832_23874833insAAAG	GRCh37
NC_000004.10:g.23483930_23483931insAAAG	NCBI36
NG_028250.1:g.21868_21869insCTTT
NG_028250.2:g.604766_604767insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11542_234+11543insCTTT MANE Select	ENSP00000264867.2:n.234+11542_234+11543insCTTT
ENST00000264867.6:c.234+11542_234+11543insCTTT	ENSP00000264867.2:n.234+11542_234+11543insCTTT
ENST00000506055.5:c.234+11542_234+11543insCTTT	ENSP00000423075.1:n.234+11542_234+11543insCTTT
ENST00000507342.5:n.314+11542_314+11543insCTTT
ENST00000508380.1:n.154+8748_154+8749insCTTT
ENST00000509642.5:n.327+4504_327+4505insCTTT
ENST00000509702.5:n.191+8711_191+8712insCTTT
ENST00000512169.1:n.327+4504_327+4505insCTTT
ENST00000513205.5:c.234+11542_234+11543insCTTT	ENSP00000421632.1:n.234+11542_234+11543insCTTT
ENST00000515534.5:n.307-6964_307-6963insCTTT
ENST00000612355.1:c.222+11542_222+11543insCTTT	ENSP00000479729.1:n.222+11542_222+11543insCTTT
ENST00000613098.4:c.-148+7519_-148+7520insCTTT	ENSP00000481498.1:n.-148+7519_-148+7520insCTTT
ENST00000617484.4:c.222+11542_222+11543insCTTT	ENSP00000477921.1:n.222+11542_222+11543insCTTT
NM_013261.3:c.234+11542_234+11543insCTTT	NP_037393.1:n.234+11542_234+11543insCTTT
XM_005248130.2:c.249+11542_249+11543insCTTT	XP_005248187.1:n.249+11542_249+11543insCTTT
XM_005248131.3:c.246+11542_246+11543insCTTT	XP_005248188.1:n.246+11542_246+11543insCTTT
XM_005248132.1:c.225+11542_225+11543insCTTT	XP_005248189.1:n.225+11542_225+11543insCTTT
XM_005248134.3:c.249+11542_249+11543insCTTT	XP_005248191.1:n.249+11542_249+11543insCTTT
XM_011513764.1:c.234+11542_234+11543insCTTT	XP_011512066.1:n.234+11542_234+11543insCTTT
XM_011513765.1:c.198+11542_198+11543insCTTT	XP_011512067.1:n.198+11542_198+11543insCTTT
XM_011513766.1:c.129+4504_129+4505insCTTT	XP_011512068.1:n.129+4504_129+4505insCTTT
XM_011513767.1:c.129+4504_129+4505insCTTT	XP_011512069.1:n.129+4504_129+4505insCTTT
XM_011513768.1:c.129+4504_129+4505insCTTT	XP_011512070.1:n.129+4504_129+4505insCTTT
XM_011513769.1:c.249+11542_249+11543insCTTT	XP_011512071.1:n.249+11542_249+11543insCTTT
XM_011513770.1:c.-148+7519_-148+7520insCTTT	XP_011512072.1:n.-148+7519_-148+7520insCTTT
XM_011513771.1:c.-148+8748_-148+8749insCTTT	XP_011512073.1:n.-148+8748_-148+8749insCTTT
NM_001330751.1:c.249+11542_249+11543insCTTT	NP_001317680.1:n.249+11542_249+11543insCTTT
NM_001330752.1:c.198+11542_198+11543insCTTT	NP_001317681.1:n.198+11542_198+11543insCTTT
NM_001330753.1:c.-148+7519_-148+7520insCTTT	NP_001317682.1:n.-148+7519_-148+7520insCTTT
NM_001354825.1:c.249+11542_249+11543insCTTT	NP_001341754.1:n.249+11542_249+11543insCTTT
NM_001354826.1:c.-148+11101_-148+11102insCTTT	NP_001341755.1:n.-148+11101_-148+11102insCTTT
NM_001354827.1:c.249+11542_249+11543insCTTT	NP_001341756.1:n.249+11542_249+11543insCTTT
NM_013261.4:c.234+11542_234+11543insCTTT	NP_037393.1:n.234+11542_234+11543insCTTT
NR_148981.1:n.700+11542_700+11543insCTTT
NR_148982.1:n.803+11542_803+11543insCTTT
NR_148983.1:n.956+4504_956+4505insCTTT
NR_148984.1:n.354+11542_354+11543insCTTT
NR_148985.1:n.868+11542_868+11543insCTTT
NR_148986.1:n.700+11542_700+11543insCTTT
NR_148987.1:n.700+11542_700+11543insCTTT
XM_005248131.5:c.246+11542_246+11543insCTTT	XP_005248188.1:n.246+11542_246+11543insCTTT
XM_005248134.4:c.249+11542_249+11543insCTTT	XP_005248191.1:n.249+11542_249+11543insCTTT
XM_011513769.2:c.249+11542_249+11543insCTTT	XP_011512071.1:n.249+11542_249+11543insCTTT
XM_024453878.1:c.249+11542_249+11543insCTTT	XP_024309646.1:n.249+11542_249+11543insCTTT
NM_013261.5:c.234+11542_234+11543insCTTT MANE Select	NP_037393.1:n.234+11542_234+11543insCTTT
NM_001330751.2:c.249+11542_249+11543insCTTT	NP_001317680.1:n.249+11542_249+11543insCTTT
NM_001330752.2:c.198+11542_198+11543insCTTT	NP_001317681.1:n.198+11542_198+11543insCTTT
NM_001354825.2:c.249+11542_249+11543insCTTT	NP_001341754.1:n.249+11542_249+11543insCTTT
NM_001354826.2:c.-148+11101_-148+11102insCTTT	NP_001341755.1:n.-148+11101_-148+11102insCTTT
NM_001354827.2:c.249+11542_249+11543insCTTT	NP_001341756.1:n.249+11542_249+11543insCTTT
NR_148981.2:n.776+11542_776+11543insCTTT
NR_148982.2:n.879+11542_879+11543insCTTT
NR_148983.2:n.1032+4504_1032+4505insCTTT
NR_148984.2:n.324+11542_324+11543insCTTT
NR_148985.2:n.944+11542_944+11543insCTTT
NR_148986.2:n.776+11542_776+11543insCTTT
NR_148987.2:n.776+11542_776+11543insCTTT
NM_001330753.2:c.-148+7519_-148+7520insCTTT	NP_001317682.1:n.-148+7519_-148+7520insCTTT