Canonical Allele Identifier: CA393756819

Gene: POLG

Linked Data

• ClinVar Variation Id: 2629837
• ClinVar RCV Id: RCV003985883
• MyVariant Identifiers: chr15:g.89866707G>C (hg19) ; chr15:g.89323476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323476G>C , CM000677.2:g.89323476G>C	GRCh38
NC_000015.9:g.89866707G>C , CM000677.1:g.89866707G>C	GRCh37
NC_000015.8:g.87667711G>C	NCBI36
NG_008218.1:g.16320C>G
NG_008218.2:g.16320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2193C>G	ENSP00000516154.1:p.Ser731Arg
ENST00000268124.11:c.2193C>G MANE Select	ENSP00000268124.5:p.Ser731Arg
ENST00000530292.3:c.1794C>G	ENSP00000432885.2:p.Ser598Arg
ENST00000635986.2:c.2193C>G	ENSP00000490653.2:p.Ser731Arg
ENST00000636774.1:c.*760C>G	ENSP00000489799.1:n.*760C>G
ENST00000637238.1:c.890C>G	ENSP00000490756.1:n.890C>G
ENST00000637264.1:c.1265C>G
ENST00000666746.1:c.1770C>G
ENST00000670281.1:c.513C>G	ENSP00000499709.1:p.Ser171Arg
ENST00000672071.1:n.2391C>G
ENST00000672923.2:n.2296C>G
ENST00000268124.9:c.2193C>G	ENSP00000268124.5:p.Ser731Arg
ENST00000442287.6:c.2193C>G	ENSP00000399851.2:p.Ser731Arg
ENST00000526314.2:c.539+339C>G
ENST00000526398.1:c.342C>G
ENST00000532584.5:n.395C>G
ENST00000631044.2:c.*1617C>G	ENSP00000486730.1:n.*1617C>G
NM_001126131.1:c.2193C>G	NP_001119603.1:p.Ser731Arg
NM_002693.2:c.2193C>G	NP_002684.1:p.Ser731Arg
NM_001126131.2:c.2193C>G	NP_001119603.1:p.Ser731Arg
NM_002693.3:c.2193C>G MANE Select	NP_002684.1:p.Ser731Arg