Canonical Allele Identifier: CA356524776

Gene: PPARGC1A

Linked Data

• ClinVar Variation Id: 2541292
• ClinVar RCV Id: RCV004309916
• MyVariant Identifiers: chr4:g.23815865T>C (hg19) ; chr4:g.23814242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814242T>C , CM000666.2:g.23814242T>C	GRCh38
NC_000004.11:g.23815865T>C , CM000666.1:g.23815865T>C	GRCh37
NC_000004.10:g.23424963T>C	NCBI36
NG_028250.1:g.80836A>G
NG_028250.2:g.663734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1241A>G MANE Select	ENSP00000264867.2:p.Asp414Gly
ENST00000264867.6:c.1241A>G	ENSP00000264867.2:p.Asp414Gly
ENST00000506055.5:c.*456A>G	ENSP00000423075.1:n.*456A>G
ENST00000509702.5:n.1281A>G
ENST00000613098.4:c.860A>G	ENSP00000481498.1:p.Asp287Gly
NM_013261.3:c.1241A>G	NP_037393.1:p.Asp414Gly
XM_005248130.2:c.1256A>G	XP_005248187.1:p.Asp419Gly
XM_005248131.3:c.1253A>G	XP_005248188.1:p.Asp418Gly
XM_005248132.1:c.1232A>G	XP_005248189.1:p.Asp411Gly
XM_005248134.3:c.1256A>G	XP_005248191.1:p.Asp419Gly
XM_011513764.1:c.1241A>G	XP_011512066.1:p.Asp414Gly
XM_011513765.1:c.1205A>G	XP_011512067.1:p.Asp402Gly
XM_011513766.1:c.1136A>G	XP_011512068.1:p.Asp379Gly
XM_011513767.1:c.1136A>G	XP_011512069.1:p.Asp379Gly
XM_011513768.1:c.1136A>G	XP_011512070.1:p.Asp379Gly
XM_011513769.1:c.1256A>G	XP_011512071.1:p.Asp419Gly
XM_011513770.1:c.860A>G	XP_011512072.1:p.Asp287Gly
XM_011513771.1:c.860A>G	XP_011512073.1:p.Asp287Gly
NM_001330751.1:c.1256A>G	NP_001317680.1:p.Asp419Gly
NM_001330752.1:c.1205A>G	NP_001317681.1:p.Asp402Gly
NM_001330753.1:c.860A>G	NP_001317682.1:p.Asp287Gly
NM_001354825.1:c.1256A>G	NP_001341754.1:p.Asp419Gly
NM_001354826.1:c.860A>G	NP_001341755.1:p.Asp287Gly
NM_001354827.1:c.1256A>G	NP_001341756.1:p.Asp419Gly
NM_013261.4:c.1241A>G	NP_037393.1:p.Asp414Gly
NR_148981.1:n.1768A>G
NR_148982.1:n.1841A>G
NR_148983.1:n.1994A>G
NR_148984.1:n.1392A>G
NR_148985.1:n.1906A>G
NR_148986.1:n.1911A>G
NR_148987.1:n.1993A>G
XM_005248131.5:c.1253A>G	XP_005248188.1:p.Asp418Gly
XM_005248134.4:c.1256A>G	XP_005248191.1:p.Asp419Gly
XM_011513769.2:c.1256A>G	XP_011512071.1:p.Asp419Gly
XM_024453878.1:c.1256A>G	XP_024309646.1:p.Asp419Gly
NM_013261.5:c.1241A>G MANE Select	NP_037393.1:p.Asp414Gly
NM_001330751.2:c.1256A>G	NP_001317680.1:p.Asp419Gly
NM_001330752.2:c.1205A>G	NP_001317681.1:p.Asp402Gly
NM_001354825.2:c.1256A>G	NP_001341754.1:p.Asp419Gly
NM_001354826.2:c.860A>G	NP_001341755.1:p.Asp287Gly
NM_001354827.2:c.1256A>G	NP_001341756.1:p.Asp419Gly
NR_148981.2:n.1844A>G
NR_148982.2:n.1917A>G
NR_148983.2:n.2070A>G
NR_148984.2:n.1362A>G
NR_148985.2:n.1982A>G
NR_148986.2:n.1987A>G
NR_148987.2:n.2069A>G
NM_001330753.2:c.860A>G	NP_001317682.1:p.Asp287Gly