Canonical Allele Identifier: CA356524458

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815753T>A (hg19) ; chr4:g.23814130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814130T>A , CM000666.2:g.23814130T>A	GRCh38
NC_000004.11:g.23815753T>A , CM000666.1:g.23815753T>A	GRCh37
NC_000004.10:g.23424851T>A	NCBI36
NG_028250.1:g.80948A>T
NG_028250.2:g.663846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1353A>T MANE Select	ENSP00000264867.2:p.Lys451Asn
ENST00000264867.6:c.1353A>T	ENSP00000264867.2:p.Lys451Asn
ENST00000506055.5:c.*568A>T	ENSP00000423075.1:n.*568A>T
ENST00000509702.5:n.1393A>T
ENST00000613098.4:c.972A>T	ENSP00000481498.1:p.Lys324Asn
NM_013261.3:c.1353A>T	NP_037393.1:p.Lys451Asn
XM_005248130.2:c.1368A>T	XP_005248187.1:p.Lys456Asn
XM_005248131.3:c.1365A>T	XP_005248188.1:p.Lys455Asn
XM_005248132.1:c.1344A>T	XP_005248189.1:p.Lys448Asn
XM_005248134.3:c.1368A>T	XP_005248191.1:p.Lys456Asn
XM_011513764.1:c.1353A>T	XP_011512066.1:p.Lys451Asn
XM_011513765.1:c.1317A>T	XP_011512067.1:p.Lys439Asn
XM_011513766.1:c.1248A>T	XP_011512068.1:p.Lys416Asn
XM_011513767.1:c.1248A>T	XP_011512069.1:p.Lys416Asn
XM_011513768.1:c.1248A>T	XP_011512070.1:p.Lys416Asn
XM_011513769.1:c.1368A>T	XP_011512071.1:p.Lys456Asn
XM_011513770.1:c.972A>T	XP_011512072.1:p.Lys324Asn
XM_011513771.1:c.972A>T	XP_011512073.1:p.Lys324Asn
NM_001330751.1:c.1368A>T	NP_001317680.1:p.Lys456Asn
NM_001330752.1:c.1317A>T	NP_001317681.1:p.Lys439Asn
NM_001330753.1:c.972A>T	NP_001317682.1:p.Lys324Asn
NM_001354825.1:c.1368A>T	NP_001341754.1:p.Lys456Asn
NM_001354826.1:c.972A>T	NP_001341755.1:p.Lys324Asn
NM_001354827.1:c.1368A>T	NP_001341756.1:p.Lys456Asn
NM_013261.4:c.1353A>T	NP_037393.1:p.Lys451Asn
NR_148981.1:n.1880A>T
NR_148982.1:n.1953A>T
NR_148983.1:n.2106A>T
NR_148984.1:n.1504A>T
NR_148985.1:n.2018A>T
NR_148986.1:n.2023A>T
NR_148987.1:n.2105A>T
XM_005248131.5:c.1365A>T	XP_005248188.1:p.Lys455Asn
XM_005248134.4:c.1368A>T	XP_005248191.1:p.Lys456Asn
XM_011513769.2:c.1368A>T	XP_011512071.1:p.Lys456Asn
XM_024453878.1:c.1368A>T	XP_024309646.1:p.Lys456Asn
NM_013261.5:c.1353A>T MANE Select	NP_037393.1:p.Lys451Asn
NM_001330751.2:c.1368A>T	NP_001317680.1:p.Lys456Asn
NM_001330752.2:c.1317A>T	NP_001317681.1:p.Lys439Asn
NM_001354825.2:c.1368A>T	NP_001341754.1:p.Lys456Asn
NM_001354826.2:c.972A>T	NP_001341755.1:p.Lys324Asn
NM_001354827.2:c.1368A>T	NP_001341756.1:p.Lys456Asn
NR_148981.2:n.1956A>T
NR_148982.2:n.2029A>T
NR_148983.2:n.2182A>T
NR_148984.2:n.1474A>T
NR_148985.2:n.2094A>T
NR_148986.2:n.2099A>T
NR_148987.2:n.2181A>T
NM_001330753.2:c.972A>T	NP_001317682.1:p.Lys324Asn