Canonical Allele Identifier: CA438896081
Gene: PPARGC1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.23815717G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814094G>A , CM000666.2:g.23814094G>A GRCh38
NC_000004.11:g.23815717G>A , CM000666.1:g.23815717G>A GRCh37
NC_000004.10:g.23424815G>A NCBI36
NG_028250.1:g.80984C>T
NG_028250.2:g.663882C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1389C>T MANE Select ENSP00000264867.2:p.Asn463=
ENST00000264867.6:c.1389C>T ENSP00000264867.2:p.Asn463=
ENST00000506055.5:c.*604C>T ENSP00000423075.1:n.*604C>T
ENST00000509702.5:n.1429C>T
ENST00000613098.4:c.1008C>T ENSP00000481498.1:p.Asn336=
NM_013261.3:c.1389C>T NP_037393.1:p.Asn463=
XM_005248130.2:c.1404C>T XP_005248187.1:p.Asn468=
XM_005248131.3:c.1401C>T XP_005248188.1:p.Asn467=
XM_005248132.1:c.1380C>T XP_005248189.1:p.Asn460=
XM_005248134.3:c.1404C>T XP_005248191.1:p.Asn468=
XM_011513764.1:c.1389C>T XP_011512066.1:p.Asn463=
XM_011513765.1:c.1353C>T XP_011512067.1:p.Asn451=
XM_011513766.1:c.1284C>T XP_011512068.1:p.Asn428=
XM_011513767.1:c.1284C>T XP_011512069.1:p.Asn428=
XM_011513768.1:c.1284C>T XP_011512070.1:p.Asn428=
XM_011513769.1:c.1404C>T XP_011512071.1:p.Asn468=
XM_011513770.1:c.1008C>T XP_011512072.1:p.Asn336=
XM_011513771.1:c.1008C>T XP_011512073.1:p.Asn336=
NM_001330751.1:c.1404C>T NP_001317680.1:p.Asn468=
NM_001330752.1:c.1353C>T NP_001317681.1:p.Asn451=
NM_001330753.1:c.1008C>T NP_001317682.1:p.Asn336=
NM_001354825.1:c.1404C>T NP_001341754.1:p.Asn468=
NM_001354826.1:c.1008C>T NP_001341755.1:p.Asn336=
NM_001354827.1:c.1404C>T NP_001341756.1:p.Asn468=
NM_013261.4:c.1389C>T NP_037393.1:p.Asn463=
NR_148981.1:n.1916C>T
NR_148982.1:n.1989C>T
NR_148983.1:n.2142C>T
NR_148984.1:n.1540C>T
NR_148985.1:n.2054C>T
NR_148986.1:n.2059C>T
NR_148987.1:n.2141C>T
XM_005248131.5:c.1401C>T XP_005248188.1:p.Asn467=
XM_005248134.4:c.1404C>T XP_005248191.1:p.Asn468=
XM_011513769.2:c.1404C>T XP_011512071.1:p.Asn468=
XM_024453878.1:c.1404C>T XP_024309646.1:p.Asn468=
NM_013261.5:c.1389C>T MANE Select NP_037393.1:p.Asn463=
NM_001330751.2:c.1404C>T NP_001317680.1:p.Asn468=
NM_001330752.2:c.1353C>T NP_001317681.1:p.Asn451=
NM_001354825.2:c.1404C>T NP_001341754.1:p.Asn468=
NM_001354826.2:c.1008C>T NP_001341755.1:p.Asn336=
NM_001354827.2:c.1404C>T NP_001341756.1:p.Asn468=
NR_148981.2:n.1992C>T
NR_148982.2:n.2065C>T
NR_148983.2:n.2218C>T
NR_148984.2:n.1510C>T
NR_148985.2:n.2130C>T
NR_148986.2:n.2135C>T
NR_148987.2:n.2217C>T
NM_001330753.2:c.1008C>T NP_001317682.1:p.Asn336=