Canonical Allele Identifier: CA356524857

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815887A>G (hg19) ; chr4:g.23814264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814264A>G , CM000666.2:g.23814264A>G	GRCh38
NC_000004.11:g.23815887A>G , CM000666.1:g.23815887A>G	GRCh37
NC_000004.10:g.23424985A>G	NCBI36
NG_028250.1:g.80814T>C
NG_028250.2:g.663712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1219T>C MANE Select	ENSP00000264867.2:p.Ser407Pro
ENST00000264867.6:c.1219T>C	ENSP00000264867.2:p.Ser407Pro
ENST00000506055.5:c.*434T>C	ENSP00000423075.1:n.*434T>C
ENST00000509702.5:n.1259T>C
ENST00000613098.4:c.838T>C	ENSP00000481498.1:p.Ser280Pro
NM_013261.3:c.1219T>C	NP_037393.1:p.Ser407Pro
XM_005248130.2:c.1234T>C	XP_005248187.1:p.Ser412Pro
XM_005248131.3:c.1231T>C	XP_005248188.1:p.Ser411Pro
XM_005248132.1:c.1210T>C	XP_005248189.1:p.Ser404Pro
XM_005248134.3:c.1234T>C	XP_005248191.1:p.Ser412Pro
XM_011513764.1:c.1219T>C	XP_011512066.1:p.Ser407Pro
XM_011513765.1:c.1183T>C	XP_011512067.1:p.Ser395Pro
XM_011513766.1:c.1114T>C	XP_011512068.1:p.Ser372Pro
XM_011513767.1:c.1114T>C	XP_011512069.1:p.Ser372Pro
XM_011513768.1:c.1114T>C	XP_011512070.1:p.Ser372Pro
XM_011513769.1:c.1234T>C	XP_011512071.1:p.Ser412Pro
XM_011513770.1:c.838T>C	XP_011512072.1:p.Ser280Pro
XM_011513771.1:c.838T>C	XP_011512073.1:p.Ser280Pro
NM_001330751.1:c.1234T>C	NP_001317680.1:p.Ser412Pro
NM_001330752.1:c.1183T>C	NP_001317681.1:p.Ser395Pro
NM_001330753.1:c.838T>C	NP_001317682.1:p.Ser280Pro
NM_001354825.1:c.1234T>C	NP_001341754.1:p.Ser412Pro
NM_001354826.1:c.838T>C	NP_001341755.1:p.Ser280Pro
NM_001354827.1:c.1234T>C	NP_001341756.1:p.Ser412Pro
NM_013261.4:c.1219T>C	NP_037393.1:p.Ser407Pro
NR_148981.1:n.1746T>C
NR_148982.1:n.1819T>C
NR_148983.1:n.1972T>C
NR_148984.1:n.1370T>C
NR_148985.1:n.1884T>C
NR_148986.1:n.1889T>C
NR_148987.1:n.1971T>C
XM_005248131.5:c.1231T>C	XP_005248188.1:p.Ser411Pro
XM_005248134.4:c.1234T>C	XP_005248191.1:p.Ser412Pro
XM_011513769.2:c.1234T>C	XP_011512071.1:p.Ser412Pro
XM_024453878.1:c.1234T>C	XP_024309646.1:p.Ser412Pro
NM_013261.5:c.1219T>C MANE Select	NP_037393.1:p.Ser407Pro
NM_001330751.2:c.1234T>C	NP_001317680.1:p.Ser412Pro
NM_001330752.2:c.1183T>C	NP_001317681.1:p.Ser395Pro
NM_001354825.2:c.1234T>C	NP_001341754.1:p.Ser412Pro
NM_001354826.2:c.838T>C	NP_001341755.1:p.Ser280Pro
NM_001354827.2:c.1234T>C	NP_001341756.1:p.Ser412Pro
NR_148981.2:n.1822T>C
NR_148982.2:n.1895T>C
NR_148983.2:n.2048T>C
NR_148984.2:n.1340T>C
NR_148985.2:n.1960T>C
NR_148986.2:n.1965T>C
NR_148987.2:n.2047T>C
NM_001330753.2:c.838T>C	NP_001317682.1:p.Ser280Pro