Canonical Allele Identifier: CA447141962

Gene: PPARGC1B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149820480T>A , CM000667.2:g.149820480T>A	GRCh38
NC_000005.9:g.149200043T>A , CM000667.1:g.149200043T>A	GRCh37
NC_000005.8:g.149180236T>A	NCBI36
NG_016747.1:g.95229T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_133263.4:c.126T>A MANE Select	NP_573570.3:p.Leu42=
ENST00000309241.10:c.126T>A MANE Select	ENSP00000312649.5:p.Leu42=
NM_001172698.1:c.126T>A	NP_001166169.1:p.Leu42=
NM_001172698.2:c.126T>A	NP_001166169.1:p.Leu42=
NM_001172699.1:c.51T>A	NP_001166170.1:p.Leu17=
NM_001172699.2:c.51T>A	NP_001166170.1:p.Leu17=
NM_133263.3:c.126T>A	NP_573570.3:p.Leu42=
ENST00000309241.9:c.126T>A	ENSP00000312649.5:p.Leu42=
ENST00000360453.8:c.126T>A	ENSP00000353638.4:p.Leu42=
ENST00000394320.7:c.126T>A	ENSP00000377855.3:p.Leu42=
ENST00000403750.5:c.51T>A	ENSP00000384403.1:p.Leu17=
XM_005268372.3:c.63T>A	XP_005268429.1:p.Leu21=
XM_005268372.4:c.63T>A	XP_005268429.1:p.Leu21=
XM_011537553.1:c.126T>A	XP_011535855.1:p.Leu42=
XM_011537553.2:c.126T>A	XP_011535855.1:p.Leu42=
XM_011537554.1:c.63T>A	XP_011535856.1:p.Leu21=
XM_011537554.2:c.63T>A	XP_011535856.1:p.Leu21=
XM_011537555.1:c.126T>A	XP_011535857.1:p.Leu42=
XM_011537555.2:c.126T>A	XP_011535857.1:p.Leu42=
XM_011537556.1:c.-370T>A	XP_011535858.1:n.-370T>A
XM_011537556.2:c.-370T>A	XP_011535858.1:n.-370T>A
XM_011537557.1:c.126T>A	XP_011535859.1:p.Leu42=