Canonical Allele Identifier: CA7724698
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89325664G>A
GRCh37 chr15:g.89868895G>A
Revel Score:
ENST00000268124 (MANE Select) 0.860
ENST00000442287 0.860
ENST00000526314 0.860
gnomAD v2:
15:89868895 G / A
gnomAD v3:
15:89325664 G / A
gnomAD v4:
chr15-89325664-G-A
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000576 (NFE)
ClinVar Allele:
464598
ClinVar RCV:
RCV000544202
RCV001584248
ClinVar Variation:
458695
dbSNP:
556925652
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325664G>A , CM000677.2:g.89325664G>A GRCh38
NC_000015.9:g.89868895G>A , CM000677.1:g.89868895G>A GRCh37
NC_000015.8:g.87669899G>A NCBI36
NG_008218.1:g.14132C>T
NG_008218.2:g.14132C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1735C>T ENSP00000516154.1:p.Arg579Trp
ENST00000268124.11:c.1735C>T MANE Select ENSP00000268124.5:p.Arg579Trp
ENST00000530292.3:c.1336C>T ENSP00000432885.2:p.Arg446Trp
ENST00000635986.2:c.1735C>T ENSP00000490653.2:p.Arg579Trp
ENST00000636774.1:c.*302C>T ENSP00000489799.1:n.*302C>T
ENST00000637238.1:c.472C>T ENSP00000490756.1:p.Arg158Trp
ENST00000637264.1:c.807C>T
ENST00000666746.1:c.1312C>T
ENST00000670281.1:c.55C>T ENSP00000499709.1:p.Arg19Trp
ENST00000672071.1:n.1933C>T
ENST00000672923.2:n.1838C>T
ENST00000268124.9:c.1735C>T ENSP00000268124.5:p.Arg579Trp
ENST00000442287.6:c.1735C>T ENSP00000399851.2:p.Arg579Trp
ENST00000526314.2:c.117C>T
ENST00000631044.2:c.*1118C>T ENSP00000486730.1:n.*1118C>T
NM_001126131.1:c.1735C>T NP_001119603.1:p.Arg579Trp
NM_002693.2:c.1735C>T NP_002684.1:p.Arg579Trp
NM_001126131.2:c.1735C>T NP_001119603.1:p.Arg579Trp
NM_002693.3:c.1735C>T MANE Select NP_002684.1:p.Arg579Trp
Search 100 bp 5'
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