Canonical Allele Identifier: CA356524906

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815901T>A (hg19) ; chr4:g.23814278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814278T>A , CM000666.2:g.23814278T>A	GRCh38
NC_000004.11:g.23815901T>A , CM000666.1:g.23815901T>A	GRCh37
NC_000004.10:g.23424999T>A	NCBI36
NG_028250.1:g.80800A>T
NG_028250.2:g.663698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1205A>T MANE Select	ENSP00000264867.2:p.Gln402Leu
ENST00000264867.6:c.1205A>T	ENSP00000264867.2:p.Gln402Leu
ENST00000506055.5:c.*420A>T	ENSP00000423075.1:n.*420A>T
ENST00000509702.5:n.1245A>T
ENST00000613098.4:c.824A>T	ENSP00000481498.1:p.Gln275Leu
NM_013261.3:c.1205A>T	NP_037393.1:p.Gln402Leu
XM_005248130.2:c.1220A>T	XP_005248187.1:p.Gln407Leu
XM_005248131.3:c.1217A>T	XP_005248188.1:p.Gln406Leu
XM_005248132.1:c.1196A>T	XP_005248189.1:p.Gln399Leu
XM_005248134.3:c.1220A>T	XP_005248191.1:p.Gln407Leu
XM_011513764.1:c.1205A>T	XP_011512066.1:p.Gln402Leu
XM_011513765.1:c.1169A>T	XP_011512067.1:p.Gln390Leu
XM_011513766.1:c.1100A>T	XP_011512068.1:p.Gln367Leu
XM_011513767.1:c.1100A>T	XP_011512069.1:p.Gln367Leu
XM_011513768.1:c.1100A>T	XP_011512070.1:p.Gln367Leu
XM_011513769.1:c.1220A>T	XP_011512071.1:p.Gln407Leu
XM_011513770.1:c.824A>T	XP_011512072.1:p.Gln275Leu
XM_011513771.1:c.824A>T	XP_011512073.1:p.Gln275Leu
NM_001330751.1:c.1220A>T	NP_001317680.1:p.Gln407Leu
NM_001330752.1:c.1169A>T	NP_001317681.1:p.Gln390Leu
NM_001330753.1:c.824A>T	NP_001317682.1:p.Gln275Leu
NM_001354825.1:c.1220A>T	NP_001341754.1:p.Gln407Leu
NM_001354826.1:c.824A>T	NP_001341755.1:p.Gln275Leu
NM_001354827.1:c.1220A>T	NP_001341756.1:p.Gln407Leu
NM_013261.4:c.1205A>T	NP_037393.1:p.Gln402Leu
NR_148981.1:n.1732A>T
NR_148982.1:n.1805A>T
NR_148983.1:n.1958A>T
NR_148984.1:n.1356A>T
NR_148985.1:n.1870A>T
NR_148986.1:n.1875A>T
NR_148987.1:n.1957A>T
XM_005248131.5:c.1217A>T	XP_005248188.1:p.Gln406Leu
XM_005248134.4:c.1220A>T	XP_005248191.1:p.Gln407Leu
XM_011513769.2:c.1220A>T	XP_011512071.1:p.Gln407Leu
XM_024453878.1:c.1220A>T	XP_024309646.1:p.Gln407Leu
NM_013261.5:c.1205A>T MANE Select	NP_037393.1:p.Gln402Leu
NM_001330751.2:c.1220A>T	NP_001317680.1:p.Gln407Leu
NM_001330752.2:c.1169A>T	NP_001317681.1:p.Gln390Leu
NM_001354825.2:c.1220A>T	NP_001341754.1:p.Gln407Leu
NM_001354826.2:c.824A>T	NP_001341755.1:p.Gln275Leu
NM_001354827.2:c.1220A>T	NP_001341756.1:p.Gln407Leu
NR_148981.2:n.1808A>T
NR_148982.2:n.1881A>T
NR_148983.2:n.2034A>T
NR_148984.2:n.1326A>T
NR_148985.2:n.1946A>T
NR_148986.2:n.1951A>T
NR_148987.2:n.2033A>T
NM_001330753.2:c.824A>T	NP_001317682.1:p.Gln275Leu