Canonical Allele Identifier: CA438896251

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814199-A-G
• MyVariant Identifiers: chr4:g.23815822A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814199A>G , CM000666.2:g.23814199A>G	GRCh38
NC_000004.11:g.23815822A>G , CM000666.1:g.23815822A>G	GRCh37
NC_000004.10:g.23424920A>G	NCBI36
NG_028250.1:g.80879T>C
NG_028250.2:g.663777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1284T>C MANE Select	ENSP00000264867.2:p.Asp428=
ENST00000264867.6:c.1284T>C	ENSP00000264867.2:p.Asp428=
ENST00000506055.5:c.*499T>C	ENSP00000423075.1:n.*499T>C
ENST00000509702.5:n.1324T>C
ENST00000613098.4:c.903T>C	ENSP00000481498.1:p.Asp301=
NM_013261.3:c.1284T>C	NP_037393.1:p.Asp428=
XM_005248130.2:c.1299T>C	XP_005248187.1:p.Asp433=
XM_005248131.3:c.1296T>C	XP_005248188.1:p.Asp432=
XM_005248132.1:c.1275T>C	XP_005248189.1:p.Asp425=
XM_005248134.3:c.1299T>C	XP_005248191.1:p.Asp433=
XM_011513764.1:c.1284T>C	XP_011512066.1:p.Asp428=
XM_011513765.1:c.1248T>C	XP_011512067.1:p.Asp416=
XM_011513766.1:c.1179T>C	XP_011512068.1:p.Asp393=
XM_011513767.1:c.1179T>C	XP_011512069.1:p.Asp393=
XM_011513768.1:c.1179T>C	XP_011512070.1:p.Asp393=
XM_011513769.1:c.1299T>C	XP_011512071.1:p.Asp433=
XM_011513770.1:c.903T>C	XP_011512072.1:p.Asp301=
XM_011513771.1:c.903T>C	XP_011512073.1:p.Asp301=
NM_001330751.1:c.1299T>C	NP_001317680.1:p.Asp433=
NM_001330752.1:c.1248T>C	NP_001317681.1:p.Asp416=
NM_001330753.1:c.903T>C	NP_001317682.1:p.Asp301=
NM_001354825.1:c.1299T>C	NP_001341754.1:p.Asp433=
NM_001354826.1:c.903T>C	NP_001341755.1:p.Asp301=
NM_001354827.1:c.1299T>C	NP_001341756.1:p.Asp433=
NM_013261.4:c.1284T>C	NP_037393.1:p.Asp428=
NR_148981.1:n.1811T>C
NR_148982.1:n.1884T>C
NR_148983.1:n.2037T>C
NR_148984.1:n.1435T>C
NR_148985.1:n.1949T>C
NR_148986.1:n.1954T>C
NR_148987.1:n.2036T>C
XM_005248131.5:c.1296T>C	XP_005248188.1:p.Asp432=
XM_005248134.4:c.1299T>C	XP_005248191.1:p.Asp433=
XM_011513769.2:c.1299T>C	XP_011512071.1:p.Asp433=
XM_024453878.1:c.1299T>C	XP_024309646.1:p.Asp433=
NM_013261.5:c.1284T>C MANE Select	NP_037393.1:p.Asp428=
NM_001330751.2:c.1299T>C	NP_001317680.1:p.Asp433=
NM_001330752.2:c.1248T>C	NP_001317681.1:p.Asp416=
NM_001354825.2:c.1299T>C	NP_001341754.1:p.Asp433=
NM_001354826.2:c.903T>C	NP_001341755.1:p.Asp301=
NM_001354827.2:c.1299T>C	NP_001341756.1:p.Asp433=
NR_148981.2:n.1887T>C
NR_148982.2:n.1960T>C
NR_148983.2:n.2113T>C
NR_148984.2:n.1405T>C
NR_148985.2:n.2025T>C
NR_148986.2:n.2030T>C
NR_148987.2:n.2112T>C
NM_001330753.2:c.903T>C	NP_001317682.1:p.Asp301=