Canonical Allele Identifier: CA93562318

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs868712025
• gnomAD v4: 4-23814123-G-A
• MyVariant Identifiers: chr4:g.23815746G>A (hg19) ; chr4:g.23814123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814123G>A , CM000666.2:g.23814123G>A	GRCh38
NC_000004.11:g.23815746G>A , CM000666.1:g.23815746G>A	GRCh37
NC_000004.10:g.23424844G>A	NCBI36
NG_028250.1:g.80955C>T
NG_028250.2:g.663853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1360C>T MANE Select	ENSP00000264867.2:p.Gln454Ter
ENST00000264867.6:c.1360C>T	ENSP00000264867.2:p.Gln454Ter
ENST00000506055.5:c.*575C>T	ENSP00000423075.1:n.*575C>T
ENST00000509702.5:n.1400C>T
ENST00000613098.4:c.979C>T	ENSP00000481498.1:p.Gln327Ter
NM_013261.3:c.1360C>T	NP_037393.1:p.Gln454Ter
XM_005248130.2:c.1375C>T	XP_005248187.1:p.Gln459Ter
XM_005248131.3:c.1372C>T	XP_005248188.1:p.Gln458Ter
XM_005248132.1:c.1351C>T	XP_005248189.1:p.Gln451Ter
XM_005248134.3:c.1375C>T	XP_005248191.1:p.Gln459Ter
XM_011513764.1:c.1360C>T	XP_011512066.1:p.Gln454Ter
XM_011513765.1:c.1324C>T	XP_011512067.1:p.Gln442Ter
XM_011513766.1:c.1255C>T	XP_011512068.1:p.Gln419Ter
XM_011513767.1:c.1255C>T	XP_011512069.1:p.Gln419Ter
XM_011513768.1:c.1255C>T	XP_011512070.1:p.Gln419Ter
XM_011513769.1:c.1375C>T	XP_011512071.1:p.Gln459Ter
XM_011513770.1:c.979C>T	XP_011512072.1:p.Gln327Ter
XM_011513771.1:c.979C>T	XP_011512073.1:p.Gln327Ter
NM_001330751.1:c.1375C>T	NP_001317680.1:p.Gln459Ter
NM_001330752.1:c.1324C>T	NP_001317681.1:p.Gln442Ter
NM_001330753.1:c.979C>T	NP_001317682.1:p.Gln327Ter
NM_001354825.1:c.1375C>T	NP_001341754.1:p.Gln459Ter
NM_001354826.1:c.979C>T	NP_001341755.1:p.Gln327Ter
NM_001354827.1:c.1375C>T	NP_001341756.1:p.Gln459Ter
NM_013261.4:c.1360C>T	NP_037393.1:p.Gln454Ter
NR_148981.1:n.1887C>T
NR_148982.1:n.1960C>T
NR_148983.1:n.2113C>T
NR_148984.1:n.1511C>T
NR_148985.1:n.2025C>T
NR_148986.1:n.2030C>T
NR_148987.1:n.2112C>T
XM_005248131.5:c.1372C>T	XP_005248188.1:p.Gln458Ter
XM_005248134.4:c.1375C>T	XP_005248191.1:p.Gln459Ter
XM_011513769.2:c.1375C>T	XP_011512071.1:p.Gln459Ter
XM_024453878.1:c.1375C>T	XP_024309646.1:p.Gln459Ter
NM_013261.5:c.1360C>T MANE Select	NP_037393.1:p.Gln454Ter
NM_001330751.2:c.1375C>T	NP_001317680.1:p.Gln459Ter
NM_001330752.2:c.1324C>T	NP_001317681.1:p.Gln442Ter
NM_001354825.2:c.1375C>T	NP_001341754.1:p.Gln459Ter
NM_001354826.2:c.979C>T	NP_001341755.1:p.Gln327Ter
NM_001354827.2:c.1375C>T	NP_001341756.1:p.Gln459Ter
NR_148981.2:n.1963C>T
NR_148982.2:n.2036C>T
NR_148983.2:n.2189C>T
NR_148984.2:n.1481C>T
NR_148985.2:n.2101C>T
NR_148986.2:n.2106C>T
NR_148987.2:n.2188C>T
NM_001330753.2:c.979C>T	NP_001317682.1:p.Gln327Ter