Canonical Allele Identifier: CA2581502808

Gene: PPARGC1B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149833893A>C , CM000667.2:g.149833893A>C	GRCh38
NC_000005.9:g.149213456A>C , CM000667.1:g.149213456A>C	GRCh37
NC_000005.8:g.149193649A>C	NCBI36
NG_016747.1:g.108642A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_133263.4:c.1705+115A>C MANE Select	NP_573570.3:n.1705+115A>C
ENST00000309241.10:c.1705+115A>C MANE Select	ENSP00000312649.5:n.1705+115A>C
NM_001172698.1:c.1588+115A>C	NP_001166169.1:n.1588+115A>C
NM_001172698.2:c.1588+115A>C	NP_001166169.1:n.1588+115A>C
NM_001172699.1:c.1513+115A>C	NP_001166170.1:n.1513+115A>C
NM_001172699.2:c.1513+115A>C	NP_001166170.1:n.1513+115A>C
NM_133263.3:c.1705+115A>C	NP_573570.3:n.1705+115A>C
ENST00000309241.9:c.1705+115A>C	ENSP00000312649.5:n.1705+115A>C
ENST00000360453.8:c.1588+115A>C	ENSP00000353638.4:n.1588+115A>C
ENST00000394320.7:c.1705+115A>C	ENSP00000377855.3:n.1705+115A>C
ENST00000403750.5:c.1513+115A>C	ENSP00000384403.1:n.1513+115A>C
ENST00000434684.1:c.764+115A>C
XM_005268372.3:c.1642+115A>C	XP_005268429.1:n.1642+115A>C
XM_005268372.4:c.1642+115A>C	XP_005268429.1:n.1642+115A>C
XM_011537553.1:c.1705+115A>C	XP_011535855.1:n.1705+115A>C
XM_011537553.2:c.1705+115A>C	XP_011535855.1:n.1705+115A>C
XM_011537554.1:c.1642+115A>C	XP_011535856.1:n.1642+115A>C
XM_011537554.2:c.1642+115A>C	XP_011535856.1:n.1642+115A>C
XM_011537555.1:c.1588+115A>C	XP_011535857.1:n.1588+115A>C
XM_011537555.2:c.1588+115A>C	XP_011535857.1:n.1588+115A>C
XM_011537556.1:c.1093+115A>C	XP_011535858.1:n.1093+115A>C
XM_011537556.2:c.1093+115A>C	XP_011535858.1:n.1093+115A>C
XM_011537557.1:c.1705+115A>C	XP_011535859.1:n.1705+115A>C