Canonical Allele Identifier: CA1590667062
Community Standard Title: NM_133263.4(PPARGC1B):c.126T= (p.Leu42=)
Gene: PPARGC1B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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