Canonical Allele Identifier: CA316824
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89327317A>G
GRCh37 chr15:g.89870548A>G
Revel Score:
ENST00000268124 (MANE Select) 0.918
ENST00000442287 0.918
gnomAD v2:
15:89870548 A / G
gnomAD v3:
15:89327317 A / G
gnomAD v4:
chr15-89327317-A-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV001205060
ClinVar Variation:
206591
dbSNP:
774610098
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327317A>G , CM000677.2:g.89327317A>G GRCh38
NC_000015.9:g.89870548A>G , CM000677.1:g.89870548A>G GRCh37
NC_000015.8:g.87671552A>G NCBI36
NG_008218.1:g.12479T>C
NG_008218.2:g.12479T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1283T>C ENSP00000516154.1:p.Leu428Pro
ENST00000268124.11:c.1283T>C MANE Select ENSP00000268124.5:p.Leu428Pro
ENST00000530292.3:c.884T>C ENSP00000432885.2:p.Leu295Pro
ENST00000635986.2:c.1283T>C ENSP00000490653.2:p.Leu428Pro
ENST00000636774.1:c.1283T>C ENSP00000489799.1:p.Leu428Pro
ENST00000637238.1:c.20T>C ENSP00000490756.1:p.Leu7Pro
ENST00000637264.1:c.355T>C
ENST00000666746.1:c.860T>C
ENST00000672071.1:n.1481T>C
ENST00000672923.2:n.1386T>C
ENST00000268124.9:c.1283T>C ENSP00000268124.5:p.Leu428Pro
ENST00000442287.6:c.1283T>C ENSP00000399851.2:p.Leu428Pro
ENST00000532363.2:n.141T>C
ENST00000631044.2:c.*666T>C ENSP00000486730.1:n.*666T>C
NM_001126131.1:c.1283T>C NP_001119603.1:p.Leu428Pro
NM_002693.2:c.1283T>C NP_002684.1:p.Leu428Pro
NM_001126131.2:c.1283T>C NP_001119603.1:p.Leu428Pro
NM_002693.3:c.1283T>C MANE Select NP_002684.1:p.Leu428Pro
Search 100 bp 5'
Search 100 bp 3'