Canonical Allele Identifier: CA356524527

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815783G>C (hg19) ; chr4:g.23814160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814160G>C , CM000666.2:g.23814160G>C	GRCh38
NC_000004.11:g.23815783G>C , CM000666.1:g.23815783G>C	GRCh37
NC_000004.10:g.23424881G>C	NCBI36
NG_028250.1:g.80918C>G
NG_028250.2:g.663816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1323C>G MANE Select	ENSP00000264867.2:p.Ser441Arg
ENST00000264867.6:c.1323C>G	ENSP00000264867.2:p.Ser441Arg
ENST00000506055.5:c.*538C>G	ENSP00000423075.1:n.*538C>G
ENST00000509702.5:n.1363C>G
ENST00000613098.4:c.942C>G	ENSP00000481498.1:p.Ser314Arg
NM_013261.3:c.1323C>G	NP_037393.1:p.Ser441Arg
XM_005248130.2:c.1338C>G	XP_005248187.1:p.Ser446Arg
XM_005248131.3:c.1335C>G	XP_005248188.1:p.Ser445Arg
XM_005248132.1:c.1314C>G	XP_005248189.1:p.Ser438Arg
XM_005248134.3:c.1338C>G	XP_005248191.1:p.Ser446Arg
XM_011513764.1:c.1323C>G	XP_011512066.1:p.Ser441Arg
XM_011513765.1:c.1287C>G	XP_011512067.1:p.Ser429Arg
XM_011513766.1:c.1218C>G	XP_011512068.1:p.Ser406Arg
XM_011513767.1:c.1218C>G	XP_011512069.1:p.Ser406Arg
XM_011513768.1:c.1218C>G	XP_011512070.1:p.Ser406Arg
XM_011513769.1:c.1338C>G	XP_011512071.1:p.Ser446Arg
XM_011513770.1:c.942C>G	XP_011512072.1:p.Ser314Arg
XM_011513771.1:c.942C>G	XP_011512073.1:p.Ser314Arg
NM_001330751.1:c.1338C>G	NP_001317680.1:p.Ser446Arg
NM_001330752.1:c.1287C>G	NP_001317681.1:p.Ser429Arg
NM_001330753.1:c.942C>G	NP_001317682.1:p.Ser314Arg
NM_001354825.1:c.1338C>G	NP_001341754.1:p.Ser446Arg
NM_001354826.1:c.942C>G	NP_001341755.1:p.Ser314Arg
NM_001354827.1:c.1338C>G	NP_001341756.1:p.Ser446Arg
NM_013261.4:c.1323C>G	NP_037393.1:p.Ser441Arg
NR_148981.1:n.1850C>G
NR_148982.1:n.1923C>G
NR_148983.1:n.2076C>G
NR_148984.1:n.1474C>G
NR_148985.1:n.1988C>G
NR_148986.1:n.1993C>G
NR_148987.1:n.2075C>G
XM_005248131.5:c.1335C>G	XP_005248188.1:p.Ser445Arg
XM_005248134.4:c.1338C>G	XP_005248191.1:p.Ser446Arg
XM_011513769.2:c.1338C>G	XP_011512071.1:p.Ser446Arg
XM_024453878.1:c.1338C>G	XP_024309646.1:p.Ser446Arg
NM_013261.5:c.1323C>G MANE Select	NP_037393.1:p.Ser441Arg
NM_001330751.2:c.1338C>G	NP_001317680.1:p.Ser446Arg
NM_001330752.2:c.1287C>G	NP_001317681.1:p.Ser429Arg
NM_001354825.2:c.1338C>G	NP_001341754.1:p.Ser446Arg
NM_001354826.2:c.942C>G	NP_001341755.1:p.Ser314Arg
NM_001354827.2:c.1338C>G	NP_001341756.1:p.Ser446Arg
NR_148981.2:n.1926C>G
NR_148982.2:n.1999C>G
NR_148983.2:n.2152C>G
NR_148984.2:n.1444C>G
NR_148985.2:n.2064C>G
NR_148986.2:n.2069C>G
NR_148987.2:n.2151C>G
NM_001330753.2:c.942C>G	NP_001317682.1:p.Ser314Arg