Canonical Allele Identifier: CA438896063
Gene: PPARGC1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.23815675T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814052T>C , CM000666.2:g.23814052T>C GRCh38
NC_000004.11:g.23815675T>C , CM000666.1:g.23815675T>C GRCh37
NC_000004.10:g.23424773T>C NCBI36
NG_028250.1:g.81026A>G
NG_028250.2:g.663924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1431A>G MANE Select ENSP00000264867.2:p.Glu477=
ENST00000264867.6:c.1431A>G ENSP00000264867.2:p.Glu477=
ENST00000506055.5:c.*646A>G ENSP00000423075.1:n.*646A>G
ENST00000509702.5:n.1471A>G
ENST00000613098.4:c.1050A>G ENSP00000481498.1:p.Glu350=
NM_013261.3:c.1431A>G NP_037393.1:p.Glu477=
XM_005248130.2:c.1446A>G XP_005248187.1:p.Glu482=
XM_005248131.3:c.1443A>G XP_005248188.1:p.Glu481=
XM_005248132.1:c.1422A>G XP_005248189.1:p.Glu474=
XM_005248134.3:c.1446A>G XP_005248191.1:p.Glu482=
XM_011513764.1:c.1431A>G XP_011512066.1:p.Glu477=
XM_011513765.1:c.1395A>G XP_011512067.1:p.Glu465=
XM_011513766.1:c.1326A>G XP_011512068.1:p.Glu442=
XM_011513767.1:c.1326A>G XP_011512069.1:p.Glu442=
XM_011513768.1:c.1326A>G XP_011512070.1:p.Glu442=
XM_011513769.1:c.1446A>G XP_011512071.1:p.Glu482=
XM_011513770.1:c.1050A>G XP_011512072.1:p.Glu350=
XM_011513771.1:c.1050A>G XP_011512073.1:p.Glu350=
NM_001330751.1:c.1446A>G NP_001317680.1:p.Glu482=
NM_001330752.1:c.1395A>G NP_001317681.1:p.Glu465=
NM_001330753.1:c.1050A>G NP_001317682.1:p.Glu350=
NM_001354825.1:c.1446A>G NP_001341754.1:p.Glu482=
NM_001354826.1:c.1050A>G NP_001341755.1:p.Glu350=
NM_001354827.1:c.1446A>G NP_001341756.1:p.Glu482=
NM_013261.4:c.1431A>G NP_037393.1:p.Glu477=
NR_148981.1:n.1958A>G
NR_148982.1:n.2031A>G
NR_148983.1:n.2184A>G
NR_148984.1:n.1582A>G
NR_148985.1:n.2096A>G
NR_148986.1:n.2101A>G
NR_148987.1:n.2183A>G
XM_005248131.5:c.1443A>G XP_005248188.1:p.Glu481=
XM_005248134.4:c.1446A>G XP_005248191.1:p.Glu482=
XM_011513769.2:c.1446A>G XP_011512071.1:p.Glu482=
XM_024453878.1:c.1446A>G XP_024309646.1:p.Glu482=
NM_013261.5:c.1431A>G MANE Select NP_037393.1:p.Glu477=
NM_001330751.2:c.1446A>G NP_001317680.1:p.Glu482=
NM_001330752.2:c.1395A>G NP_001317681.1:p.Glu465=
NM_001354825.2:c.1446A>G NP_001341754.1:p.Glu482=
NM_001354826.2:c.1050A>G NP_001341755.1:p.Glu350=
NM_001354827.2:c.1446A>G NP_001341756.1:p.Glu482=
NR_148981.2:n.2034A>G
NR_148982.2:n.2107A>G
NR_148983.2:n.2260A>G
NR_148984.2:n.1552A>G
NR_148985.2:n.2172A>G
NR_148986.2:n.2177A>G
NR_148987.2:n.2259A>G
NM_001330753.2:c.1050A>G NP_001317682.1:p.Glu350=