Canonical Allele Identifier: CA805554646

Gene: PPARGC1B

Linked Data

• dbSNP Id: rs1485759717
• gnomAD v3: 5-149823048-C-G
• gnomAD v4: 5-149823048-C-G
• MyVariant Identifiers: chr5:g.149202611C>G (hg19) ; chr5:g.149823048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149823048C>G , CM000667.2:g.149823048C>G	GRCh38
NC_000005.9:g.149202611C>G , CM000667.1:g.149202611C>G	GRCh37
NC_000005.8:g.149182804C>G	NCBI36
NG_016747.1:g.97797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309241.10:c.252+2442C>G MANE Select	ENSP00000312649.5:n.252+2442C>G
ENST00000309241.9:c.252+2442C>G	ENSP00000312649.5:n.252+2442C>G
ENST00000360453.8:c.252+2442C>G	ENSP00000353638.4:n.252+2442C>G
ENST00000394320.7:c.252+2442C>G	ENSP00000377855.3:n.252+2442C>G
ENST00000403750.5:c.177+2442C>G	ENSP00000384403.1:n.177+2442C>G
NM_001172698.1:c.252+2442C>G	NP_001166169.1:n.252+2442C>G
NM_001172699.1:c.177+2442C>G	NP_001166170.1:n.177+2442C>G
NM_133263.3:c.252+2442C>G	NP_573570.3:n.252+2442C>G
XM_005268372.3:c.189+2442C>G	XP_005268429.1:n.189+2442C>G
XM_011537553.1:c.252+2442C>G	XP_011535855.1:n.252+2442C>G
XM_011537554.1:c.189+2442C>G	XP_011535856.1:n.189+2442C>G
XM_011537555.1:c.252+2442C>G	XP_011535857.1:n.252+2442C>G
XM_011537556.1:c.-244+2442C>G	XP_011535858.1:n.-244+2442C>G
XM_011537557.1:c.252+2442C>G	XP_011535859.1:n.252+2442C>G
XM_005268372.4:c.189+2442C>G	XP_005268429.1:n.189+2442C>G
XM_011537553.2:c.252+2442C>G	XP_011535855.1:n.252+2442C>G
XM_011537554.2:c.189+2442C>G	XP_011535856.1:n.189+2442C>G
XM_011537555.2:c.252+2442C>G	XP_011535857.1:n.252+2442C>G
XM_011537556.2:c.-244+2442C>G	XP_011535858.1:n.-244+2442C>G
NM_133263.4:c.252+2442C>G MANE Select	NP_573570.3:n.252+2442C>G
NM_001172698.2:c.252+2442C>G	NP_001166169.1:n.252+2442C>G
NM_001172699.2:c.177+2442C>G	NP_001166170.1:n.177+2442C>G