Canonical Allele Identifier: CA393747284

Gene: POLG

Linked Data

• dbSNP Id: rs2055308073
• gnomAD v4: 15-89317401-C-T
• MyVariant Identifiers: chr15:g.89860632C>T (hg19) ; chr15:g.89317401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317401C>T , CM000677.2:g.89317401C>T	GRCh38
NC_000015.9:g.89860632C>T , CM000677.1:g.89860632C>T	GRCh37
NC_000015.8:g.87661636C>T	NCBI36
NG_008218.1:g.22395G>A
NG_011736.1:g.78439C>T , LRG_500:g.78439C>T
NG_008218.2:g.22395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3618G>A	ENSP00000516154.1:p.Met1206Ile
ENST00000268124.11:c.3618G>A MANE Select	ENSP00000268124.5:p.Met1206Ile
ENST00000530292.3:c.3318G>A	ENSP00000432885.2:n.3318G>A
ENST00000635986.2:c.*688G>A	ENSP00000490653.2:n.*688G>A
ENST00000636774.1:c.*2222G>A	ENSP00000489799.1:n.*2222G>A
ENST00000637238.1:c.2526G>A	ENSP00000490756.1:n.2526G>A
ENST00000637264.1:c.2630G>A
ENST00000666746.1:c.3195G>A
ENST00000672071.1:n.4820G>A
ENST00000672695.1:n.1397G>A
ENST00000672923.2:n.3618G>A
ENST00000268124.9:c.3618G>A	ENSP00000268124.5:p.Met1206Ile
ENST00000442287.6:c.3618G>A	ENSP00000399851.2:p.Met1206Ile
ENST00000526671.1:n.428G>A
ENST00000530292.2:c.801G>A	ENSP00000432885.1:n.801G>A
ENST00000631044.2:c.*3042G>A	ENSP00000486730.1:n.*3042G>A
NM_001126131.1:c.3618G>A	NP_001119603.1:p.Met1206Ile
NM_002693.2:c.3618G>A	NP_002684.1:p.Met1206Ile
NM_001126131.2:c.3618G>A	NP_001119603.1:p.Met1206Ile
NM_002693.3:c.3618G>A MANE Select	NP_002684.1:p.Met1206Ile