Canonical Allele Identifier: CA356524794

Gene: PPARGC1A

Linked Data

• MyVariant Identifiers: chr4:g.23815870A>C (hg19) ; chr4:g.23814247A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814247A>C , CM000666.2:g.23814247A>C	GRCh38
NC_000004.11:g.23815870A>C , CM000666.1:g.23815870A>C	GRCh37
NC_000004.10:g.23424968A>C	NCBI36
NG_028250.1:g.80831T>G
NG_028250.2:g.663729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1236T>G MANE Select	ENSP00000264867.2:p.Asn412Lys
ENST00000264867.6:c.1236T>G	ENSP00000264867.2:p.Asn412Lys
ENST00000506055.5:c.*451T>G	ENSP00000423075.1:n.*451T>G
ENST00000509702.5:n.1276T>G
ENST00000613098.4:c.855T>G	ENSP00000481498.1:p.Asn285Lys
NM_013261.3:c.1236T>G	NP_037393.1:p.Asn412Lys
XM_005248130.2:c.1251T>G	XP_005248187.1:p.Asn417Lys
XM_005248131.3:c.1248T>G	XP_005248188.1:p.Asn416Lys
XM_005248132.1:c.1227T>G	XP_005248189.1:p.Asn409Lys
XM_005248134.3:c.1251T>G	XP_005248191.1:p.Asn417Lys
XM_011513764.1:c.1236T>G	XP_011512066.1:p.Asn412Lys
XM_011513765.1:c.1200T>G	XP_011512067.1:p.Asn400Lys
XM_011513766.1:c.1131T>G	XP_011512068.1:p.Asn377Lys
XM_011513767.1:c.1131T>G	XP_011512069.1:p.Asn377Lys
XM_011513768.1:c.1131T>G	XP_011512070.1:p.Asn377Lys
XM_011513769.1:c.1251T>G	XP_011512071.1:p.Asn417Lys
XM_011513770.1:c.855T>G	XP_011512072.1:p.Asn285Lys
XM_011513771.1:c.855T>G	XP_011512073.1:p.Asn285Lys
NM_001330751.1:c.1251T>G	NP_001317680.1:p.Asn417Lys
NM_001330752.1:c.1200T>G	NP_001317681.1:p.Asn400Lys
NM_001330753.1:c.855T>G	NP_001317682.1:p.Asn285Lys
NM_001354825.1:c.1251T>G	NP_001341754.1:p.Asn417Lys
NM_001354826.1:c.855T>G	NP_001341755.1:p.Asn285Lys
NM_001354827.1:c.1251T>G	NP_001341756.1:p.Asn417Lys
NM_013261.4:c.1236T>G	NP_037393.1:p.Asn412Lys
NR_148981.1:n.1763T>G
NR_148982.1:n.1836T>G
NR_148983.1:n.1989T>G
NR_148984.1:n.1387T>G
NR_148985.1:n.1901T>G
NR_148986.1:n.1906T>G
NR_148987.1:n.1988T>G
XM_005248131.5:c.1248T>G	XP_005248188.1:p.Asn416Lys
XM_005248134.4:c.1251T>G	XP_005248191.1:p.Asn417Lys
XM_011513769.2:c.1251T>G	XP_011512071.1:p.Asn417Lys
XM_024453878.1:c.1251T>G	XP_024309646.1:p.Asn417Lys
NM_013261.5:c.1236T>G MANE Select	NP_037393.1:p.Asn412Lys
NM_001330751.2:c.1251T>G	NP_001317680.1:p.Asn417Lys
NM_001330752.2:c.1200T>G	NP_001317681.1:p.Asn400Lys
NM_001354825.2:c.1251T>G	NP_001341754.1:p.Asn417Lys
NM_001354826.2:c.855T>G	NP_001341755.1:p.Asn285Lys
NM_001354827.2:c.1251T>G	NP_001341756.1:p.Asn417Lys
NR_148981.2:n.1839T>G
NR_148982.2:n.1912T>G
NR_148983.2:n.2065T>G
NR_148984.2:n.1357T>G
NR_148985.2:n.1977T>G
NR_148986.2:n.1982T>G
NR_148987.2:n.2064T>G
NM_001330753.2:c.855T>G	NP_001317682.1:p.Asn285Lys