Canonical Allele Identifier: CA438895981

Gene: PPARGC1A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23813899C>G , CM000666.2:g.23813899C>G	GRCh38
NC_000004.11:g.23815522C>G , CM000666.1:g.23815522C>G	GRCh37
NC_000004.10:g.23424620C>G	NCBI36
NG_028250.1:g.81179G>C
NG_028250.2:g.664077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1584G>C MANE Select	ENSP00000264867.2:p.Thr528=
ENST00000264867.6:c.1584G>C	ENSP00000264867.2:p.Thr528=
ENST00000506055.5:c.*799G>C	ENSP00000423075.1:n.*799G>C
ENST00000509702.5:n.1624G>C
ENST00000613098.4:c.1203G>C	ENSP00000481498.1:p.Thr401=
NM_013261.3:c.1584G>C	NP_037393.1:p.Thr528=
XM_005248130.2:c.1599G>C	XP_005248187.1:p.Thr533=
XM_005248131.3:c.1596G>C	XP_005248188.1:p.Thr532=
XM_005248132.1:c.1575G>C	XP_005248189.1:p.Thr525=
XM_005248134.3:c.1599G>C	XP_005248191.1:p.Thr533=
XM_011513764.1:c.1584G>C	XP_011512066.1:p.Thr528=
XM_011513765.1:c.1548G>C	XP_011512067.1:p.Thr516=
XM_011513766.1:c.1479G>C	XP_011512068.1:p.Thr493=
XM_011513767.1:c.1479G>C	XP_011512069.1:p.Thr493=
XM_011513768.1:c.1479G>C	XP_011512070.1:p.Thr493=
XM_011513769.1:c.1599G>C	XP_011512071.1:p.Thr533=
XM_011513770.1:c.1203G>C	XP_011512072.1:p.Thr401=
XM_011513771.1:c.1203G>C	XP_011512073.1:p.Thr401=
NM_001330751.1:c.1599G>C	NP_001317680.1:p.Thr533=
NM_001330752.1:c.1548G>C	NP_001317681.1:p.Thr516=
NM_001330753.1:c.1203G>C	NP_001317682.1:p.Thr401=
NM_001354825.1:c.1599G>C	NP_001341754.1:p.Thr533=
NM_001354826.1:c.1203G>C	NP_001341755.1:p.Thr401=
NM_001354827.1:c.1599G>C	NP_001341756.1:p.Thr533=
NM_013261.4:c.1584G>C	NP_037393.1:p.Thr528=
NR_148981.1:n.2111G>C
NR_148982.1:n.2184G>C
NR_148983.1:n.2337G>C
NR_148984.1:n.1735G>C
NR_148985.1:n.2249G>C
NR_148986.1:n.2254G>C
NR_148987.1:n.2336G>C
XM_005248131.5:c.1596G>C	XP_005248188.1:p.Thr532=
XM_005248134.4:c.1599G>C	XP_005248191.1:p.Thr533=
XM_011513769.2:c.1599G>C	XP_011512071.1:p.Thr533=
XM_024453878.1:c.1599G>C	XP_024309646.1:p.Thr533=
NM_013261.5:c.1584G>C MANE Select	NP_037393.1:p.Thr528=
NM_001330751.2:c.1599G>C	NP_001317680.1:p.Thr533=
NM_001330752.2:c.1548G>C	NP_001317681.1:p.Thr516=
NM_001354825.2:c.1599G>C	NP_001341754.1:p.Thr533=
NM_001354826.2:c.1203G>C	NP_001341755.1:p.Thr401=
NM_001354827.2:c.1599G>C	NP_001341756.1:p.Thr533=
NR_148981.2:n.2187G>C
NR_148982.2:n.2260G>C
NR_148983.2:n.2413G>C
NR_148984.2:n.1705G>C
NR_148985.2:n.2325G>C
NR_148986.2:n.2330G>C
NR_148987.2:n.2412G>C
NM_001330753.2:c.1203G>C	NP_001317682.1:p.Thr401=