Canonical Allele Identifier: CA438896303

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814238-G-T
• MyVariant Identifiers: chr4:g.23815861G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814238G>T , CM000666.2:g.23814238G>T	GRCh38
NC_000004.11:g.23815861G>T , CM000666.1:g.23815861G>T	GRCh37
NC_000004.10:g.23424959G>T	NCBI36
NG_028250.1:g.80840C>A
NG_028250.2:g.663738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1245C>A MANE Select	ENSP00000264867.2:p.Val415=
ENST00000264867.6:c.1245C>A	ENSP00000264867.2:p.Val415=
ENST00000506055.5:c.*460C>A	ENSP00000423075.1:n.*460C>A
ENST00000509702.5:n.1285C>A
ENST00000613098.4:c.864C>A	ENSP00000481498.1:p.Val288=
NM_013261.3:c.1245C>A	NP_037393.1:p.Val415=
XM_005248130.2:c.1260C>A	XP_005248187.1:p.Val420=
XM_005248131.3:c.1257C>A	XP_005248188.1:p.Val419=
XM_005248132.1:c.1236C>A	XP_005248189.1:p.Val412=
XM_005248134.3:c.1260C>A	XP_005248191.1:p.Val420=
XM_011513764.1:c.1245C>A	XP_011512066.1:p.Val415=
XM_011513765.1:c.1209C>A	XP_011512067.1:p.Val403=
XM_011513766.1:c.1140C>A	XP_011512068.1:p.Val380=
XM_011513767.1:c.1140C>A	XP_011512069.1:p.Val380=
XM_011513768.1:c.1140C>A	XP_011512070.1:p.Val380=
XM_011513769.1:c.1260C>A	XP_011512071.1:p.Val420=
XM_011513770.1:c.864C>A	XP_011512072.1:p.Val288=
XM_011513771.1:c.864C>A	XP_011512073.1:p.Val288=
NM_001330751.1:c.1260C>A	NP_001317680.1:p.Val420=
NM_001330752.1:c.1209C>A	NP_001317681.1:p.Val403=
NM_001330753.1:c.864C>A	NP_001317682.1:p.Val288=
NM_001354825.1:c.1260C>A	NP_001341754.1:p.Val420=
NM_001354826.1:c.864C>A	NP_001341755.1:p.Val288=
NM_001354827.1:c.1260C>A	NP_001341756.1:p.Val420=
NM_013261.4:c.1245C>A	NP_037393.1:p.Val415=
NR_148981.1:n.1772C>A
NR_148982.1:n.1845C>A
NR_148983.1:n.1998C>A
NR_148984.1:n.1396C>A
NR_148985.1:n.1910C>A
NR_148986.1:n.1915C>A
NR_148987.1:n.1997C>A
XM_005248131.5:c.1257C>A	XP_005248188.1:p.Val419=
XM_005248134.4:c.1260C>A	XP_005248191.1:p.Val420=
XM_011513769.2:c.1260C>A	XP_011512071.1:p.Val420=
XM_024453878.1:c.1260C>A	XP_024309646.1:p.Val420=
NM_013261.5:c.1245C>A MANE Select	NP_037393.1:p.Val415=
NM_001330751.2:c.1260C>A	NP_001317680.1:p.Val420=
NM_001330752.2:c.1209C>A	NP_001317681.1:p.Val403=
NM_001354825.2:c.1260C>A	NP_001341754.1:p.Val420=
NM_001354826.2:c.864C>A	NP_001341755.1:p.Val288=
NM_001354827.2:c.1260C>A	NP_001341756.1:p.Val420=
NR_148981.2:n.1848C>A
NR_148982.2:n.1921C>A
NR_148983.2:n.2074C>A
NR_148984.2:n.1366C>A
NR_148985.2:n.1986C>A
NR_148986.2:n.1991C>A
NR_148987.2:n.2073C>A
NM_001330753.2:c.864C>A	NP_001317682.1:p.Val288=