Canonical Allele Identifier: CA393759411

Gene: POLG

Linked Data

• dbSNP Id: rs1447550385
• gnomAD v2: 15-89868865-G-T
• gnomAD v4: 15-89325634-G-T
• MyVariant Identifiers: chr15:g.89868865G>T (hg19) ; chr15:g.89325634G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325634G>T , CM000677.2:g.89325634G>T	GRCh38
NC_000015.9:g.89868865G>T , CM000677.1:g.89868865G>T	GRCh37
NC_000015.8:g.87669869G>T	NCBI36
NG_008218.1:g.14162C>A
NG_008218.2:g.14162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1765C>A	ENSP00000516154.1:p.Pro589Thr
ENST00000268124.11:c.1765C>A MANE Select	ENSP00000268124.5:p.Pro589Thr
ENST00000530292.3:c.1366C>A	ENSP00000432885.2:p.Pro456Thr
ENST00000635986.2:c.1765C>A	ENSP00000490653.2:p.Pro589Thr
ENST00000636774.1:c.*332C>A	ENSP00000489799.1:n.*332C>A
ENST00000637238.1:c.502C>A	ENSP00000490756.1:p.Pro168Thr
ENST00000637264.1:c.837C>A
ENST00000666746.1:c.1342C>A
ENST00000670281.1:c.85C>A	ENSP00000499709.1:p.Pro29Thr
ENST00000672071.1:n.1963C>A
ENST00000672923.2:n.1868C>A
ENST00000268124.9:c.1765C>A	ENSP00000268124.5:p.Pro589Thr
ENST00000442287.6:c.1765C>A	ENSP00000399851.2:p.Pro589Thr
ENST00000526314.2:c.147C>A
ENST00000631044.2:c.*1148C>A	ENSP00000486730.1:n.*1148C>A
NM_001126131.1:c.1765C>A	NP_001119603.1:p.Pro589Thr
NM_002693.2:c.1765C>A	NP_002684.1:p.Pro589Thr
NM_001126131.2:c.1765C>A	NP_001119603.1:p.Pro589Thr
NM_002693.3:c.1765C>A MANE Select	NP_002684.1:p.Pro589Thr