Canonical Allele Identifier: CA356524078
Gene: PPARGC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23813963A>C , CM000666.2:g.23813963A>C GRCh38
NC_000004.11:g.23815586A>C , CM000666.1:g.23815586A>C GRCh37
NC_000004.10:g.23424684A>C NCBI36
NG_028250.1:g.81115T>G
NG_028250.2:g.664013T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1520T>G MANE Select ENSP00000264867.2:p.Met507Arg
ENST00000264867.6:c.1520T>G ENSP00000264867.2:p.Met507Arg
ENST00000506055.5:c.*735T>G ENSP00000423075.1:n.*735T>G
ENST00000509702.5:n.1560T>G
ENST00000613098.4:c.1139T>G ENSP00000481498.1:p.Met380Arg
NM_013261.3:c.1520T>G NP_037393.1:p.Met507Arg
XM_005248130.2:c.1535T>G XP_005248187.1:p.Met512Arg
XM_005248131.3:c.1532T>G XP_005248188.1:p.Met511Arg
XM_005248132.1:c.1511T>G XP_005248189.1:p.Met504Arg
XM_005248134.3:c.1535T>G XP_005248191.1:p.Met512Arg
XM_011513764.1:c.1520T>G XP_011512066.1:p.Met507Arg
XM_011513765.1:c.1484T>G XP_011512067.1:p.Met495Arg
XM_011513766.1:c.1415T>G XP_011512068.1:p.Met472Arg
XM_011513767.1:c.1415T>G XP_011512069.1:p.Met472Arg
XM_011513768.1:c.1415T>G XP_011512070.1:p.Met472Arg
XM_011513769.1:c.1535T>G XP_011512071.1:p.Met512Arg
XM_011513770.1:c.1139T>G XP_011512072.1:p.Met380Arg
XM_011513771.1:c.1139T>G XP_011512073.1:p.Met380Arg
NM_001330751.1:c.1535T>G NP_001317680.1:p.Met512Arg
NM_001330752.1:c.1484T>G NP_001317681.1:p.Met495Arg
NM_001330753.1:c.1139T>G NP_001317682.1:p.Met380Arg
NM_001354825.1:c.1535T>G NP_001341754.1:p.Met512Arg
NM_001354826.1:c.1139T>G NP_001341755.1:p.Met380Arg
NM_001354827.1:c.1535T>G NP_001341756.1:p.Met512Arg
NM_013261.4:c.1520T>G NP_037393.1:p.Met507Arg
NR_148981.1:n.2047T>G
NR_148982.1:n.2120T>G
NR_148983.1:n.2273T>G
NR_148984.1:n.1671T>G
NR_148985.1:n.2185T>G
NR_148986.1:n.2190T>G
NR_148987.1:n.2272T>G
XM_005248131.5:c.1532T>G XP_005248188.1:p.Met511Arg
XM_005248134.4:c.1535T>G XP_005248191.1:p.Met512Arg
XM_011513769.2:c.1535T>G XP_011512071.1:p.Met512Arg
XM_024453878.1:c.1535T>G XP_024309646.1:p.Met512Arg
NM_013261.5:c.1520T>G MANE Select NP_037393.1:p.Met507Arg
NM_001330751.2:c.1535T>G NP_001317680.1:p.Met512Arg
NM_001330752.2:c.1484T>G NP_001317681.1:p.Met495Arg
NM_001354825.2:c.1535T>G NP_001341754.1:p.Met512Arg
NM_001354826.2:c.1139T>G NP_001341755.1:p.Met380Arg
NM_001354827.2:c.1535T>G NP_001341756.1:p.Met512Arg
NR_148981.2:n.2123T>G
NR_148982.2:n.2196T>G
NR_148983.2:n.2349T>G
NR_148984.2:n.1641T>G
NR_148985.2:n.2261T>G
NR_148986.2:n.2266T>G
NR_148987.2:n.2348T>G
NM_001330753.2:c.1139T>G NP_001317682.1:p.Met380Arg