Canonical Allele Identifier: CA393759418

Gene: POLG

Linked Data

• gnomAD v4: 15-89325639-G-C
• MyVariant Identifiers: chr15:g.89868870G>C (hg19) ; chr15:g.89325639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325639G>C , CM000677.2:g.89325639G>C	GRCh38
NC_000015.9:g.89868870G>C , CM000677.1:g.89868870G>C	GRCh37
NC_000015.8:g.87669874G>C	NCBI36
NG_008218.1:g.14157C>G
NG_008218.2:g.14157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1760C>G	ENSP00000516154.1:p.Pro587Arg
ENST00000268124.11:c.1760C>G MANE Select	ENSP00000268124.5:p.Pro587Arg
ENST00000530292.3:c.1361C>G	ENSP00000432885.2:p.Pro454Arg
ENST00000635986.2:c.1760C>G	ENSP00000490653.2:p.Pro587Arg
ENST00000636774.1:c.*327C>G	ENSP00000489799.1:n.*327C>G
ENST00000637238.1:c.497C>G	ENSP00000490756.1:p.Pro166Arg
ENST00000637264.1:c.832C>G
ENST00000666746.1:c.1337C>G
ENST00000670281.1:c.80C>G	ENSP00000499709.1:p.Pro27Arg
ENST00000672071.1:n.1958C>G
ENST00000672923.2:n.1863C>G
ENST00000268124.9:c.1760C>G	ENSP00000268124.5:p.Pro587Arg
ENST00000442287.6:c.1760C>G	ENSP00000399851.2:p.Pro587Arg
ENST00000526314.2:c.142C>G
ENST00000631044.2:c.*1143C>G	ENSP00000486730.1:n.*1143C>G
NM_001126131.1:c.1760C>G	NP_001119603.1:p.Pro587Arg
NM_002693.2:c.1760C>G	NP_002684.1:p.Pro587Arg
NM_001126131.2:c.1760C>G	NP_001119603.1:p.Pro587Arg
NM_002693.3:c.1760C>G MANE Select	NP_002684.1:p.Pro587Arg