Canonical Allele Identifier: CA393756695

Gene: POLG

Linked Data

• COSMIC: COSM6359219
• MyVariant Identifiers: chr15:g.89866668G>C (hg19) ; chr15:g.89323437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323437G>C , CM000677.2:g.89323437G>C	GRCh38
NC_000015.9:g.89866668G>C , CM000677.1:g.89866668G>C	GRCh37
NC_000015.8:g.87667672G>C	NCBI36
NG_008218.1:g.16359C>G
NG_008218.2:g.16359C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2232C>G	ENSP00000516154.1:p.Ile744Met
ENST00000268124.11:c.2232C>G MANE Select	ENSP00000268124.5:p.Ile744Met
ENST00000530292.3:c.1833C>G	ENSP00000432885.2:p.Ile611Met
ENST00000635986.2:c.2232C>G	ENSP00000490653.2:p.Ile744Met
ENST00000636774.1:c.*799C>G	ENSP00000489799.1:n.*799C>G
ENST00000637238.1:c.929C>G	ENSP00000490756.1:n.929C>G
ENST00000637264.1:c.1304C>G
ENST00000666746.1:c.1809C>G
ENST00000670281.1:c.552C>G	ENSP00000499709.1:p.Ile184Met
ENST00000672071.1:n.2430C>G
ENST00000672923.2:n.2335C>G
ENST00000268124.9:c.2232C>G	ENSP00000268124.5:p.Ile744Met
ENST00000442287.6:c.2232C>G	ENSP00000399851.2:p.Ile744Met
ENST00000526314.2:c.539+378C>G
ENST00000526398.1:c.381C>G
ENST00000528881.2:c.1C>G
ENST00000532584.5:n.434C>G
ENST00000631044.2:c.*1656C>G	ENSP00000486730.1:n.*1656C>G
NM_001126131.1:c.2232C>G	NP_001119603.1:p.Ile744Met
NM_002693.2:c.2232C>G	NP_002684.1:p.Ile744Met
NM_001126131.2:c.2232C>G	NP_001119603.1:p.Ile744Met
NM_002693.3:c.2232C>G MANE Select	NP_002684.1:p.Ile744Met