Canonical Allele Identifier: CA356524201

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815639G>T (hg19) ; chr4:g.23814016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814016G>T , CM000666.2:g.23814016G>T	GRCh38
NC_000004.11:g.23815639G>T , CM000666.1:g.23815639G>T	GRCh37
NC_000004.10:g.23424737G>T	NCBI36
NG_028250.1:g.81062C>A
NG_028250.2:g.663960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1467C>A MANE Select	ENSP00000264867.2:p.Phe489Leu
ENST00000264867.6:c.1467C>A	ENSP00000264867.2:p.Phe489Leu
ENST00000506055.5:c.*682C>A	ENSP00000423075.1:n.*682C>A
ENST00000509702.5:n.1507C>A
ENST00000613098.4:c.1086C>A	ENSP00000481498.1:p.Phe362Leu
NM_013261.3:c.1467C>A	NP_037393.1:p.Phe489Leu
XM_005248130.2:c.1482C>A	XP_005248187.1:p.Phe494Leu
XM_005248131.3:c.1479C>A	XP_005248188.1:p.Phe493Leu
XM_005248132.1:c.1458C>A	XP_005248189.1:p.Phe486Leu
XM_005248134.3:c.1482C>A	XP_005248191.1:p.Phe494Leu
XM_011513764.1:c.1467C>A	XP_011512066.1:p.Phe489Leu
XM_011513765.1:c.1431C>A	XP_011512067.1:p.Phe477Leu
XM_011513766.1:c.1362C>A	XP_011512068.1:p.Phe454Leu
XM_011513767.1:c.1362C>A	XP_011512069.1:p.Phe454Leu
XM_011513768.1:c.1362C>A	XP_011512070.1:p.Phe454Leu
XM_011513769.1:c.1482C>A	XP_011512071.1:p.Phe494Leu
XM_011513770.1:c.1086C>A	XP_011512072.1:p.Phe362Leu
XM_011513771.1:c.1086C>A	XP_011512073.1:p.Phe362Leu
NM_001330751.1:c.1482C>A	NP_001317680.1:p.Phe494Leu
NM_001330752.1:c.1431C>A	NP_001317681.1:p.Phe477Leu
NM_001330753.1:c.1086C>A	NP_001317682.1:p.Phe362Leu
NM_001354825.1:c.1482C>A	NP_001341754.1:p.Phe494Leu
NM_001354826.1:c.1086C>A	NP_001341755.1:p.Phe362Leu
NM_001354827.1:c.1482C>A	NP_001341756.1:p.Phe494Leu
NM_013261.4:c.1467C>A	NP_037393.1:p.Phe489Leu
NR_148981.1:n.1994C>A
NR_148982.1:n.2067C>A
NR_148983.1:n.2220C>A
NR_148984.1:n.1618C>A
NR_148985.1:n.2132C>A
NR_148986.1:n.2137C>A
NR_148987.1:n.2219C>A
XM_005248131.5:c.1479C>A	XP_005248188.1:p.Phe493Leu
XM_005248134.4:c.1482C>A	XP_005248191.1:p.Phe494Leu
XM_011513769.2:c.1482C>A	XP_011512071.1:p.Phe494Leu
XM_024453878.1:c.1482C>A	XP_024309646.1:p.Phe494Leu
NM_013261.5:c.1467C>A MANE Select	NP_037393.1:p.Phe489Leu
NM_001330751.2:c.1482C>A	NP_001317680.1:p.Phe494Leu
NM_001330752.2:c.1431C>A	NP_001317681.1:p.Phe477Leu
NM_001354825.2:c.1482C>A	NP_001341754.1:p.Phe494Leu
NM_001354826.2:c.1086C>A	NP_001341755.1:p.Phe362Leu
NM_001354827.2:c.1482C>A	NP_001341756.1:p.Phe494Leu
NR_148981.2:n.2070C>A
NR_148982.2:n.2143C>A
NR_148983.2:n.2296C>A
NR_148984.2:n.1588C>A
NR_148985.2:n.2208C>A
NR_148986.2:n.2213C>A
NR_148987.2:n.2295C>A
NM_001330753.2:c.1086C>A	NP_001317682.1:p.Phe362Leu