Canonical Allele Identifier: CA393761027

Gene: POLG

Linked Data

• ClinVar Variation Id: 1520971
• ClinVar RCV Id: RCV002027762
• dbSNP Id: rs1404711461
• gnomAD v2: 15-89870251-G-C
• gnomAD v4: 15-89327020-G-C
• MyVariant Identifiers: chr15:g.89870251G>C (hg19) ; chr15:g.89327020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327020G>C , CM000677.2:g.89327020G>C	GRCh38
NC_000015.9:g.89870251G>C , CM000677.1:g.89870251G>C	GRCh37
NC_000015.8:g.87671255G>C	NCBI36
NG_008218.1:g.12776C>G
NG_008218.2:g.12776C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1477C>G	ENSP00000516154.1:p.Gln493Glu
ENST00000268124.11:c.1477C>G MANE Select	ENSP00000268124.5:p.Gln493Glu
ENST00000530292.3:c.1078C>G	ENSP00000432885.2:p.Gln360Glu
ENST00000635986.2:c.1477C>G	ENSP00000490653.2:p.Gln493Glu
ENST00000636774.1:c.*44C>G	ENSP00000489799.1:n.*44C>G
ENST00000637238.1:c.214C>G	ENSP00000490756.1:p.Gln72Glu
ENST00000637264.1:c.549C>G
ENST00000666746.1:c.1054C>G
ENST00000672071.1:n.1675C>G
ENST00000672923.2:n.1580C>G
ENST00000268124.9:c.1477C>G	ENSP00000268124.5:p.Gln493Glu
ENST00000442287.6:c.1477C>G	ENSP00000399851.2:p.Gln493Glu
ENST00000532363.2:n.438C>G
ENST00000631044.2:c.*860C>G	ENSP00000486730.1:n.*860C>G
NM_001126131.1:c.1477C>G	NP_001119603.1:p.Gln493Glu
NM_002693.2:c.1477C>G	NP_002684.1:p.Gln493Glu
NM_001126131.2:c.1477C>G	NP_001119603.1:p.Gln493Glu
NM_002693.3:c.1477C>G MANE Select	NP_002684.1:p.Gln493Glu