Canonical Allele Identifier: CA393760713

Gene: POLG

Linked Data

• ClinVar Variation Id: 2009979
• ClinVar RCV Id: RCV002842828
• MyVariant Identifiers: chr15:g.89870149G>C (hg19) ; chr15:g.89326918G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326918G>C , CM000677.2:g.89326918G>C	GRCh38
NC_000015.9:g.89870149G>C , CM000677.1:g.89870149G>C	GRCh37
NC_000015.8:g.87671153G>C	NCBI36
NG_008218.1:g.12878C>G
NG_008218.2:g.12878C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1579C>G	ENSP00000516154.1:p.Gln527Glu
ENST00000268124.11:c.1579C>G MANE Select	ENSP00000268124.5:p.Gln527Glu
ENST00000530292.3:c.1180C>G	ENSP00000432885.2:p.Gln394Glu
ENST00000635986.2:c.1579C>G	ENSP00000490653.2:p.Gln527Glu
ENST00000636774.1:c.*146C>G	ENSP00000489799.1:n.*146C>G
ENST00000637238.1:c.316C>G	ENSP00000490756.1:p.Gln106Glu
ENST00000637264.1:c.651C>G
ENST00000666746.1:c.1156C>G
ENST00000672071.1:n.1777C>G
ENST00000672923.2:n.1682C>G
ENST00000268124.9:c.1579C>G	ENSP00000268124.5:p.Gln527Glu
ENST00000442287.6:c.1579C>G	ENSP00000399851.2:p.Gln527Glu
ENST00000631044.2:c.*962C>G	ENSP00000486730.1:n.*962C>G
NM_001126131.1:c.1579C>G	NP_001119603.1:p.Gln527Glu
NM_002693.2:c.1579C>G	NP_002684.1:p.Gln527Glu
NM_001126131.2:c.1579C>G	NP_001119603.1:p.Gln527Glu
NM_002693.3:c.1579C>G MANE Select	NP_002684.1:p.Gln527Glu