Canonical Allele Identifier: CA356524668

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815834A>C (hg19) ; chr4:g.23814211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814211A>C , CM000666.2:g.23814211A>C	GRCh38
NC_000004.11:g.23815834A>C , CM000666.1:g.23815834A>C	GRCh37
NC_000004.10:g.23424932A>C	NCBI36
NG_028250.1:g.80867T>G
NG_028250.2:g.663765T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1272T>G MANE Select	ENSP00000264867.2:p.Cys424Trp
ENST00000264867.6:c.1272T>G	ENSP00000264867.2:p.Cys424Trp
ENST00000506055.5:c.*487T>G	ENSP00000423075.1:n.*487T>G
ENST00000509702.5:n.1312T>G
ENST00000613098.4:c.891T>G	ENSP00000481498.1:p.Cys297Trp
NM_013261.3:c.1272T>G	NP_037393.1:p.Cys424Trp
XM_005248130.2:c.1287T>G	XP_005248187.1:p.Cys429Trp
XM_005248131.3:c.1284T>G	XP_005248188.1:p.Cys428Trp
XM_005248132.1:c.1263T>G	XP_005248189.1:p.Cys421Trp
XM_005248134.3:c.1287T>G	XP_005248191.1:p.Cys429Trp
XM_011513764.1:c.1272T>G	XP_011512066.1:p.Cys424Trp
XM_011513765.1:c.1236T>G	XP_011512067.1:p.Cys412Trp
XM_011513766.1:c.1167T>G	XP_011512068.1:p.Cys389Trp
XM_011513767.1:c.1167T>G	XP_011512069.1:p.Cys389Trp
XM_011513768.1:c.1167T>G	XP_011512070.1:p.Cys389Trp
XM_011513769.1:c.1287T>G	XP_011512071.1:p.Cys429Trp
XM_011513770.1:c.891T>G	XP_011512072.1:p.Cys297Trp
XM_011513771.1:c.891T>G	XP_011512073.1:p.Cys297Trp
NM_001330751.1:c.1287T>G	NP_001317680.1:p.Cys429Trp
NM_001330752.1:c.1236T>G	NP_001317681.1:p.Cys412Trp
NM_001330753.1:c.891T>G	NP_001317682.1:p.Cys297Trp
NM_001354825.1:c.1287T>G	NP_001341754.1:p.Cys429Trp
NM_001354826.1:c.891T>G	NP_001341755.1:p.Cys297Trp
NM_001354827.1:c.1287T>G	NP_001341756.1:p.Cys429Trp
NM_013261.4:c.1272T>G	NP_037393.1:p.Cys424Trp
NR_148981.1:n.1799T>G
NR_148982.1:n.1872T>G
NR_148983.1:n.2025T>G
NR_148984.1:n.1423T>G
NR_148985.1:n.1937T>G
NR_148986.1:n.1942T>G
NR_148987.1:n.2024T>G
XM_005248131.5:c.1284T>G	XP_005248188.1:p.Cys428Trp
XM_005248134.4:c.1287T>G	XP_005248191.1:p.Cys429Trp
XM_011513769.2:c.1287T>G	XP_011512071.1:p.Cys429Trp
XM_024453878.1:c.1287T>G	XP_024309646.1:p.Cys429Trp
NM_013261.5:c.1272T>G MANE Select	NP_037393.1:p.Cys424Trp
NM_001330751.2:c.1287T>G	NP_001317680.1:p.Cys429Trp
NM_001330752.2:c.1236T>G	NP_001317681.1:p.Cys412Trp
NM_001354825.2:c.1287T>G	NP_001341754.1:p.Cys429Trp
NM_001354826.2:c.891T>G	NP_001341755.1:p.Cys297Trp
NM_001354827.2:c.1287T>G	NP_001341756.1:p.Cys429Trp
NR_148981.2:n.1875T>G
NR_148982.2:n.1948T>G
NR_148983.2:n.2101T>G
NR_148984.2:n.1393T>G
NR_148985.2:n.2013T>G
NR_148986.2:n.2018T>G
NR_148987.2:n.2100T>G
NM_001330753.2:c.891T>G	NP_001317682.1:p.Cys297Trp