Canonical Allele Identifier: CA1590668211
Gene: PPARGC1B HGNC NCBI

Linked Data

dbSNP Id: rs1758371351

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149823199dup , CM000667.2:g.149823199dup GRCh38
NC_000005.9:g.149202762dup , CM000667.1:g.149202762dup GRCh37
NC_000005.8:g.149182955dup NCBI36
NG_016747.1:g.97948dup

Transcript Alleles

HGVS Amino-acid change
ENST00000309241.10:c.252+2593dup MANE Select ENSP00000312649.5:n.252+2593dup
ENST00000309241.9:c.252+2593dup ENSP00000312649.5:n.252+2593dup
ENST00000360453.8:c.252+2593dup ENSP00000353638.4:n.252+2593dup
ENST00000394320.7:c.252+2593dup ENSP00000377855.3:n.252+2593dup
ENST00000403750.5:c.177+2593dup ENSP00000384403.1:n.177+2593dup
NM_001172698.1:c.252+2593dup NP_001166169.1:n.252+2593dup
NM_001172699.1:c.177+2593dup NP_001166170.1:n.177+2593dup
NM_133263.3:c.252+2593dup NP_573570.3:n.252+2593dup
XM_005268372.3:c.189+2593dup XP_005268429.1:n.189+2593dup
XM_011537553.1:c.252+2593dup XP_011535855.1:n.252+2593dup
XM_011537554.1:c.189+2593dup XP_011535856.1:n.189+2593dup
XM_011537555.1:c.252+2593dup XP_011535857.1:n.252+2593dup
XM_011537556.1:c.-244+2593dup XP_011535858.1:n.-244+2593dup
XM_011537557.1:c.252+2593dup XP_011535859.1:n.252+2593dup
XM_005268372.4:c.189+2593dup XP_005268429.1:n.189+2593dup
XM_011537553.2:c.252+2593dup XP_011535855.1:n.252+2593dup
XM_011537554.2:c.189+2593dup XP_011535856.1:n.189+2593dup
XM_011537555.2:c.252+2593dup XP_011535857.1:n.252+2593dup
XM_011537556.2:c.-244+2593dup XP_011535858.1:n.-244+2593dup
NM_133263.4:c.252+2593dup MANE Select NP_573570.3:n.252+2593dup
NM_001172698.2:c.252+2593dup NP_001166169.1:n.252+2593dup
NM_001172699.2:c.177+2593dup NP_001166170.1:n.177+2593dup