Canonical Allele Identifier: CA316762
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89318736C>A
GRCh37 chr15:g.89861967C>A
Revel Score:
ENST00000268124 (MANE Select) 0.937
ENST00000442287 0.937
gnomAD v2:
15:89861967 C / A
gnomAD v4:
chr15-89318736-C-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar Allele:
202924
ClinVar RCV:
RCV000188616
RCV001857637
ClinVar Variation:
206559
dbSNP:
368435864
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318736C>A , CM000677.2:g.89318736C>A GRCh38
NC_000015.9:g.89861967C>A , CM000677.1:g.89861967C>A GRCh37
NC_000015.8:g.87662971C>A NCBI36
NG_008218.1:g.21060G>T
NG_011736.1:g.79774C>A , LRG_500:g.79774C>A
NG_008218.2:g.21060G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3287G>T ENSP00000516154.1:p.Arg1096Leu
ENST00000268124.11:c.3287G>T MANE Select ENSP00000268124.5:p.Arg1096Leu
ENST00000530292.3:c.2888G>T ENSP00000432885.2:p.Arg963Leu
ENST00000635986.2:c.*357G>T ENSP00000490653.2:n.*357G>T
ENST00000636774.1:c.*1854G>T ENSP00000489799.1:n.*1854G>T
ENST00000637238.1:c.2096G>T ENSP00000490756.1:n.2096G>T
ENST00000637264.1:c.2359G>T
ENST00000666746.1:c.2864G>T
ENST00000672071.1:n.3485G>T
ENST00000672695.1:n.464G>T
ENST00000672923.2:n.3287G>T
ENST00000268124.9:c.3287G>T ENSP00000268124.5:p.Arg1096Leu
ENST00000442287.6:c.3287G>T ENSP00000399851.2:p.Arg1096Leu
ENST00000530292.2:c.371G>T ENSP00000432885.1:p.Arg124Leu
ENST00000631044.2:c.*2711G>T ENSP00000486730.1:n.*2711G>T
NM_001126131.1:c.3287G>T NP_001119603.1:p.Arg1096Leu
NM_002693.2:c.3287G>T NP_002684.1:p.Arg1096Leu
NM_001126131.2:c.3287G>T NP_001119603.1:p.Arg1096Leu
NM_002693.3:c.3287G>T MANE Select NP_002684.1:p.Arg1096Leu
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