Canonical Allele Identifier: CA438896327

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1560353805
• gnomAD v2: 4-23815882-T-C
• gnomAD v3: 4-23814259-T-C
• gnomAD v4: 4-23814259-T-C
• MyVariant Identifiers: chr4:g.23815882T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814259T>C , CM000666.2:g.23814259T>C	GRCh38
NC_000004.11:g.23815882T>C , CM000666.1:g.23815882T>C	GRCh37
NC_000004.10:g.23424980T>C	NCBI36
NG_028250.1:g.80819A>G
NG_028250.2:g.663717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1224A>G MANE Select	ENSP00000264867.2:p.Arg408=
ENST00000264867.6:c.1224A>G	ENSP00000264867.2:p.Arg408=
ENST00000506055.5:c.*439A>G	ENSP00000423075.1:n.*439A>G
ENST00000509702.5:n.1264A>G
ENST00000613098.4:c.843A>G	ENSP00000481498.1:p.Arg281=
NM_013261.3:c.1224A>G	NP_037393.1:p.Arg408=
XM_005248130.2:c.1239A>G	XP_005248187.1:p.Arg413=
XM_005248131.3:c.1236A>G	XP_005248188.1:p.Arg412=
XM_005248132.1:c.1215A>G	XP_005248189.1:p.Arg405=
XM_005248134.3:c.1239A>G	XP_005248191.1:p.Arg413=
XM_011513764.1:c.1224A>G	XP_011512066.1:p.Arg408=
XM_011513765.1:c.1188A>G	XP_011512067.1:p.Arg396=
XM_011513766.1:c.1119A>G	XP_011512068.1:p.Arg373=
XM_011513767.1:c.1119A>G	XP_011512069.1:p.Arg373=
XM_011513768.1:c.1119A>G	XP_011512070.1:p.Arg373=
XM_011513769.1:c.1239A>G	XP_011512071.1:p.Arg413=
XM_011513770.1:c.843A>G	XP_011512072.1:p.Arg281=
XM_011513771.1:c.843A>G	XP_011512073.1:p.Arg281=
NM_001330751.1:c.1239A>G	NP_001317680.1:p.Arg413=
NM_001330752.1:c.1188A>G	NP_001317681.1:p.Arg396=
NM_001330753.1:c.843A>G	NP_001317682.1:p.Arg281=
NM_001354825.1:c.1239A>G	NP_001341754.1:p.Arg413=
NM_001354826.1:c.843A>G	NP_001341755.1:p.Arg281=
NM_001354827.1:c.1239A>G	NP_001341756.1:p.Arg413=
NM_013261.4:c.1224A>G	NP_037393.1:p.Arg408=
NR_148981.1:n.1751A>G
NR_148982.1:n.1824A>G
NR_148983.1:n.1977A>G
NR_148984.1:n.1375A>G
NR_148985.1:n.1889A>G
NR_148986.1:n.1894A>G
NR_148987.1:n.1976A>G
XM_005248131.5:c.1236A>G	XP_005248188.1:p.Arg412=
XM_005248134.4:c.1239A>G	XP_005248191.1:p.Arg413=
XM_011513769.2:c.1239A>G	XP_011512071.1:p.Arg413=
XM_024453878.1:c.1239A>G	XP_024309646.1:p.Arg413=
NM_013261.5:c.1224A>G MANE Select	NP_037393.1:p.Arg408=
NM_001330751.2:c.1239A>G	NP_001317680.1:p.Arg413=
NM_001330752.2:c.1188A>G	NP_001317681.1:p.Arg396=
NM_001354825.2:c.1239A>G	NP_001341754.1:p.Arg413=
NM_001354826.2:c.843A>G	NP_001341755.1:p.Arg281=
NM_001354827.2:c.1239A>G	NP_001341756.1:p.Arg413=
NR_148981.2:n.1827A>G
NR_148982.2:n.1900A>G
NR_148983.2:n.2053A>G
NR_148984.2:n.1345A>G
NR_148985.2:n.1965A>G
NR_148986.2:n.1970A>G
NR_148987.2:n.2052A>G
NM_001330753.2:c.843A>G	NP_001317682.1:p.Arg281=