Canonical Allele Identifier: CA438896105

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1197355585
• gnomAD v2: 4-23815894-G-A
• gnomAD v3: 4-23814271-G-A
• gnomAD v4: 4-23814271-G-A
• MyVariant Identifiers: chr4:g.23815894G>A (hg19) ; chr4:g.23814271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814271G>A , CM000666.2:g.23814271G>A	GRCh38
NC_000004.11:g.23815894G>A , CM000666.1:g.23815894G>A	GRCh37
NC_000004.10:g.23424992G>A	NCBI36
NG_028250.1:g.80807C>T
NG_028250.2:g.663705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1212C>T MANE Select	ENSP00000264867.2:p.Leu404=
ENST00000264867.6:c.1212C>T	ENSP00000264867.2:p.Leu404=
ENST00000506055.5:c.*427C>T	ENSP00000423075.1:n.*427C>T
ENST00000509702.5:n.1252C>T
ENST00000613098.4:c.831C>T	ENSP00000481498.1:p.Leu277=
NM_013261.3:c.1212C>T	NP_037393.1:p.Leu404=
XM_005248130.2:c.1227C>T	XP_005248187.1:p.Leu409=
XM_005248131.3:c.1224C>T	XP_005248188.1:p.Leu408=
XM_005248132.1:c.1203C>T	XP_005248189.1:p.Leu401=
XM_005248134.3:c.1227C>T	XP_005248191.1:p.Leu409=
XM_011513764.1:c.1212C>T	XP_011512066.1:p.Leu404=
XM_011513765.1:c.1176C>T	XP_011512067.1:p.Leu392=
XM_011513766.1:c.1107C>T	XP_011512068.1:p.Leu369=
XM_011513767.1:c.1107C>T	XP_011512069.1:p.Leu369=
XM_011513768.1:c.1107C>T	XP_011512070.1:p.Leu369=
XM_011513769.1:c.1227C>T	XP_011512071.1:p.Leu409=
XM_011513770.1:c.831C>T	XP_011512072.1:p.Leu277=
XM_011513771.1:c.831C>T	XP_011512073.1:p.Leu277=
NM_001330751.1:c.1227C>T	NP_001317680.1:p.Leu409=
NM_001330752.1:c.1176C>T	NP_001317681.1:p.Leu392=
NM_001330753.1:c.831C>T	NP_001317682.1:p.Leu277=
NM_001354825.1:c.1227C>T	NP_001341754.1:p.Leu409=
NM_001354826.1:c.831C>T	NP_001341755.1:p.Leu277=
NM_001354827.1:c.1227C>T	NP_001341756.1:p.Leu409=
NM_013261.4:c.1212C>T	NP_037393.1:p.Leu404=
NR_148981.1:n.1739C>T
NR_148982.1:n.1812C>T
NR_148983.1:n.1965C>T
NR_148984.1:n.1363C>T
NR_148985.1:n.1877C>T
NR_148986.1:n.1882C>T
NR_148987.1:n.1964C>T
XM_005248131.5:c.1224C>T	XP_005248188.1:p.Leu408=
XM_005248134.4:c.1227C>T	XP_005248191.1:p.Leu409=
XM_011513769.2:c.1227C>T	XP_011512071.1:p.Leu409=
XM_024453878.1:c.1227C>T	XP_024309646.1:p.Leu409=
NM_013261.5:c.1212C>T MANE Select	NP_037393.1:p.Leu404=
NM_001330751.2:c.1227C>T	NP_001317680.1:p.Leu409=
NM_001330752.2:c.1176C>T	NP_001317681.1:p.Leu392=
NM_001354825.2:c.1227C>T	NP_001341754.1:p.Leu409=
NM_001354826.2:c.831C>T	NP_001341755.1:p.Leu277=
NM_001354827.2:c.1227C>T	NP_001341756.1:p.Leu409=
NR_148981.2:n.1815C>T
NR_148982.2:n.1888C>T
NR_148983.2:n.2041C>T
NR_148984.2:n.1333C>T
NR_148985.2:n.1953C>T
NR_148986.2:n.1958C>T
NR_148987.2:n.2040C>T
NM_001330753.2:c.831C>T	NP_001317682.1:p.Leu277=