Canonical Allele Identifier: CA1060224744

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1560500674
• gnomAD v3: 4-23878816-G-A
• gnomAD v4: 4-23878816-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23878816G>A , CM000666.2:g.23878816G>A	GRCh38
NC_000004.11:g.23880439G>A , CM000666.1:g.23880439G>A	GRCh37
NC_000004.10:g.23489537G>A	NCBI36
NG_028250.1:g.16262C>T
NG_028250.2:g.599160C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264867.7:c.234+5936C>T MANE Select	ENSP00000264867.2:n.234+5936C>T
ENST00000264867.6:c.234+5936C>T	ENSP00000264867.2:n.234+5936C>T
ENST00000503714.1:n.181-2835C>T
ENST00000505469.1:n.237-951C>T
ENST00000506055.5:c.234+5936C>T	ENSP00000423075.1:n.234+5936C>T
ENST00000507342.5:n.314+5936C>T
ENST00000508380.1:n.154+3142C>T
ENST00000509642.5:n.176-951C>T
ENST00000509702.5:n.191+3105C>T
ENST00000512169.1:n.176-951C>T
ENST00000513205.5:c.234+5936C>T	ENSP00000421632.1:n.234+5936C>T
ENST00000515534.5:n.306+5936C>T
ENST00000612355.1:c.222+5936C>T	ENSP00000479729.1:n.222+5936C>T
ENST00000613098.4:c.-148+1913C>T	ENSP00000481498.1:n.-148+1913C>T
ENST00000617484.4:c.222+5936C>T	ENSP00000477921.1:n.222+5936C>T
NM_013261.3:c.234+5936C>T	NP_037393.1:n.234+5936C>T
XM_005248130.2:c.249+5936C>T	XP_005248187.1:n.249+5936C>T
XM_005248131.3:c.246+5936C>T	XP_005248188.1:n.246+5936C>T
XM_005248132.1:c.225+5936C>T	XP_005248189.1:n.225+5936C>T
XM_005248134.3:c.249+5936C>T	XP_005248191.1:n.249+5936C>T
XM_011513764.1:c.234+5936C>T	XP_011512066.1:n.234+5936C>T
XM_011513765.1:c.198+5936C>T	XP_011512067.1:n.198+5936C>T
XM_011513766.1:c.-23-951C>T	XP_011512068.1:n.-23-951C>T
XM_011513767.1:c.-23-951C>T	XP_011512069.1:n.-23-951C>T
XM_011513768.1:c.-23-951C>T	XP_011512070.1:n.-23-951C>T
XM_011513769.1:c.249+5936C>T	XP_011512071.1:n.249+5936C>T
XM_011513770.1:c.-148+1913C>T	XP_011512072.1:n.-148+1913C>T
XM_011513771.1:c.-148+3142C>T	XP_011512073.1:n.-148+3142C>T
NM_001330751.1:c.249+5936C>T	NP_001317680.1:n.249+5936C>T
NM_001330752.1:c.198+5936C>T	NP_001317681.1:n.198+5936C>T
NM_001330753.1:c.-148+1913C>T	NP_001317682.1:n.-148+1913C>T
NM_001354825.1:c.249+5936C>T	NP_001341754.1:n.249+5936C>T
NM_001354826.1:c.-148+5495C>T	NP_001341755.1:n.-148+5495C>T
NM_001354827.1:c.249+5936C>T	NP_001341756.1:n.249+5936C>T
NM_013261.4:c.234+5936C>T	NP_037393.1:n.234+5936C>T
NR_148981.1:n.700+5936C>T
NR_148982.1:n.803+5936C>T
NR_148983.1:n.805-951C>T
NR_148984.1:n.354+5936C>T
NR_148985.1:n.868+5936C>T
NR_148986.1:n.700+5936C>T
NR_148987.1:n.700+5936C>T
XM_005248131.5:c.246+5936C>T	XP_005248188.1:n.246+5936C>T
XM_005248134.4:c.249+5936C>T	XP_005248191.1:n.249+5936C>T
XM_011513769.2:c.249+5936C>T	XP_011512071.1:n.249+5936C>T
XM_024453878.1:c.249+5936C>T	XP_024309646.1:n.249+5936C>T
NM_013261.5:c.234+5936C>T MANE Select	NP_037393.1:n.234+5936C>T
NM_001330751.2:c.249+5936C>T	NP_001317680.1:n.249+5936C>T
NM_001330752.2:c.198+5936C>T	NP_001317681.1:n.198+5936C>T
NM_001354825.2:c.249+5936C>T	NP_001341754.1:n.249+5936C>T
NM_001354826.2:c.-148+5495C>T	NP_001341755.1:n.-148+5495C>T
NM_001354827.2:c.249+5936C>T	NP_001341756.1:n.249+5936C>T
NR_148981.2:n.776+5936C>T
NR_148982.2:n.879+5936C>T
NR_148983.2:n.881-951C>T
NR_148984.2:n.324+5936C>T
NR_148985.2:n.944+5936C>T
NR_148986.2:n.776+5936C>T
NR_148987.2:n.776+5936C>T
NM_001330753.2:c.-148+1913C>T	NP_001317682.1:n.-148+1913C>T