Canonical Allele Identifier: CA7724076
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 488798
dbSNP Id: rs781256643

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317379G>A , CM000677.2:g.89317379G>A GRCh38
NC_000015.9:g.89860610G>A , CM000677.1:g.89860610G>A GRCh37
NC_000015.8:g.87661614G>A NCBI36
NG_008218.1:g.22417C>T
NG_011736.1:g.78417G>A , LRG_500:g.78417G>A
NG_008218.2:g.22417C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3640C>T ENSP00000516154.1:p.Gln1214Ter
ENST00000268124.11:c.3640C>T MANE Select ENSP00000268124.5:p.Gln1214Ter
ENST00000530292.3:c.3340C>T ENSP00000432885.2:n.3340C>T
ENST00000635986.2:c.*710C>T ENSP00000490653.2:n.*710C>T
ENST00000636774.1:c.*2244C>T ENSP00000489799.1:n.*2244C>T
ENST00000637238.1:c.2548C>T ENSP00000490756.1:n.2548C>T
ENST00000637264.1:c.2652C>T
ENST00000666746.1:c.3217C>T
ENST00000672071.1:n.4842C>T
ENST00000672695.1:n.1419C>T
ENST00000672923.2:n.3640C>T
ENST00000268124.9:c.3640C>T ENSP00000268124.5:p.Gln1214Ter
ENST00000442287.6:c.3640C>T ENSP00000399851.2:p.Gln1214Ter
ENST00000526671.1:n.450C>T
ENST00000530292.2:c.823C>T ENSP00000432885.1:n.823C>T
ENST00000631044.2:c.*3064C>T ENSP00000486730.1:n.*3064C>T
NM_001126131.1:c.3640C>T NP_001119603.1:p.Gln1214Ter
NM_002693.2:c.3640C>T NP_002684.1:p.Gln1214Ter
NM_001126131.2:c.3640C>T NP_001119603.1:p.Gln1214Ter
NM_002693.3:c.3640C>T MANE Select NP_002684.1:p.Gln1214Ter