Canonical Allele Identifier: CA438896249
Gene: PPARGC1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.23815819T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814196T>G , CM000666.2:g.23814196T>G GRCh38
NC_000004.11:g.23815819T>G , CM000666.1:g.23815819T>G GRCh37
NC_000004.10:g.23424917T>G NCBI36
NG_028250.1:g.80882A>C
NG_028250.2:g.663780A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1287A>C MANE Select ENSP00000264867.2:p.Ser429=
ENST00000264867.6:c.1287A>C ENSP00000264867.2:p.Ser429=
ENST00000506055.5:c.*502A>C ENSP00000423075.1:n.*502A>C
ENST00000509702.5:n.1327A>C
ENST00000613098.4:c.906A>C ENSP00000481498.1:p.Ser302=
NM_013261.3:c.1287A>C NP_037393.1:p.Ser429=
XM_005248130.2:c.1302A>C XP_005248187.1:p.Ser434=
XM_005248131.3:c.1299A>C XP_005248188.1:p.Ser433=
XM_005248132.1:c.1278A>C XP_005248189.1:p.Ser426=
XM_005248134.3:c.1302A>C XP_005248191.1:p.Ser434=
XM_011513764.1:c.1287A>C XP_011512066.1:p.Ser429=
XM_011513765.1:c.1251A>C XP_011512067.1:p.Ser417=
XM_011513766.1:c.1182A>C XP_011512068.1:p.Ser394=
XM_011513767.1:c.1182A>C XP_011512069.1:p.Ser394=
XM_011513768.1:c.1182A>C XP_011512070.1:p.Ser394=
XM_011513769.1:c.1302A>C XP_011512071.1:p.Ser434=
XM_011513770.1:c.906A>C XP_011512072.1:p.Ser302=
XM_011513771.1:c.906A>C XP_011512073.1:p.Ser302=
NM_001330751.1:c.1302A>C NP_001317680.1:p.Ser434=
NM_001330752.1:c.1251A>C NP_001317681.1:p.Ser417=
NM_001330753.1:c.906A>C NP_001317682.1:p.Ser302=
NM_001354825.1:c.1302A>C NP_001341754.1:p.Ser434=
NM_001354826.1:c.906A>C NP_001341755.1:p.Ser302=
NM_001354827.1:c.1302A>C NP_001341756.1:p.Ser434=
NM_013261.4:c.1287A>C NP_037393.1:p.Ser429=
NR_148981.1:n.1814A>C
NR_148982.1:n.1887A>C
NR_148983.1:n.2040A>C
NR_148984.1:n.1438A>C
NR_148985.1:n.1952A>C
NR_148986.1:n.1957A>C
NR_148987.1:n.2039A>C
XM_005248131.5:c.1299A>C XP_005248188.1:p.Ser433=
XM_005248134.4:c.1302A>C XP_005248191.1:p.Ser434=
XM_011513769.2:c.1302A>C XP_011512071.1:p.Ser434=
XM_024453878.1:c.1302A>C XP_024309646.1:p.Ser434=
NM_013261.5:c.1287A>C MANE Select NP_037393.1:p.Ser429=
NM_001330751.2:c.1302A>C NP_001317680.1:p.Ser434=
NM_001330752.2:c.1251A>C NP_001317681.1:p.Ser417=
NM_001354825.2:c.1302A>C NP_001341754.1:p.Ser434=
NM_001354826.2:c.906A>C NP_001341755.1:p.Ser302=
NM_001354827.2:c.1302A>C NP_001341756.1:p.Ser434=
NR_148981.2:n.1890A>C
NR_148982.2:n.1963A>C
NR_148983.2:n.2116A>C
NR_148984.2:n.1408A>C
NR_148985.2:n.2028A>C
NR_148986.2:n.2033A>C
NR_148987.2:n.2115A>C
NM_001330753.2:c.906A>C NP_001317682.1:p.Ser302=