Canonical Allele Identifier: CA7724669

Gene: POLG

Linked Data

• ClinVar Variation Id: 436359
• ClinVar RCV Id: RCV000503435 ; RCV000660508 ; RCV003985793
• dbSNP Id: rs375305567
• ExAC: 15:89868750 C / T
• gnomAD v2: 15-89868750-C-T
• gnomAD v3: 15-89325519-C-T
• gnomAD v4: 15-89325519-C-T
• MyVariant Identifiers: chr15:g.89868750C>T (hg19) ; chr15:g.89325519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325519C>T , CM000677.2:g.89325519C>T	GRCh38
NC_000015.9:g.89868750C>T , CM000677.1:g.89868750C>T	GRCh37
NC_000015.8:g.87669754C>T	NCBI36
NG_008218.1:g.14277G>A
NG_008218.2:g.14277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1880G>A	ENSP00000516154.1:p.Arg627Gln
ENST00000268124.11:c.1880G>A MANE Select	ENSP00000268124.5:p.Arg627Gln
ENST00000530292.3:c.1481G>A	ENSP00000432885.2:p.Arg494Gln
ENST00000635986.2:c.1880G>A	ENSP00000490653.2:p.Arg627Gln
ENST00000636774.1:c.*447G>A	ENSP00000489799.1:n.*447G>A
ENST00000637238.1:c.617G>A	ENSP00000490756.1:p.Arg206Gln
ENST00000637264.1:c.952G>A
ENST00000666746.1:c.1457G>A
ENST00000670281.1:c.200G>A	ENSP00000499709.1:p.Arg67Gln
ENST00000672071.1:n.2078G>A
ENST00000672923.2:n.1983G>A
ENST00000268124.9:c.1880G>A	ENSP00000268124.5:p.Arg627Gln
ENST00000442287.6:c.1880G>A	ENSP00000399851.2:p.Arg627Gln
ENST00000526314.2:c.262G>A
ENST00000526398.1:c.69G>A
ENST00000532584.5:n.82G>A
ENST00000631044.2:c.*1263G>A	ENSP00000486730.1:n.*1263G>A
NM_001126131.1:c.1880G>A	NP_001119603.1:p.Arg627Gln
NM_002693.2:c.1880G>A	NP_002684.1:p.Arg627Gln
NM_001126131.2:c.1880G>A	NP_001119603.1:p.Arg627Gln
NM_002693.3:c.1880G>A MANE Select	NP_002684.1:p.Arg627Gln