Canonical Allele Identifier: CA393749707
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318572G>T , CM000677.2:g.89318572G>T GRCh38
NC_000015.9:g.89861803G>T , CM000677.1:g.89861803G>T GRCh37
NC_000015.8:g.87662807G>T NCBI36
NG_008218.1:g.21224C>A
NG_011736.1:g.79610G>T , LRG_500:g.79610G>T
NG_008218.2:g.21224C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3451C>A ENSP00000516154.1:p.Leu1151Met
ENST00000268124.11:c.3451C>A MANE Select ENSP00000268124.5:p.Leu1151Met
ENST00000530292.3:c.3052C>A ENSP00000432885.2:p.Leu1018Met
ENST00000635986.2:c.*521C>A ENSP00000490653.2:n.*521C>A
ENST00000636774.1:c.*2018C>A ENSP00000489799.1:n.*2018C>A
ENST00000637238.1:c.2260C>A ENSP00000490756.1:n.2260C>A
ENST00000637264.1:c.2523C>A
ENST00000666746.1:c.3028C>A
ENST00000672071.1:n.3649C>A
ENST00000672695.1:n.628C>A
ENST00000672923.2:n.3451C>A
ENST00000268124.9:c.3451C>A ENSP00000268124.5:p.Leu1151Met
ENST00000442287.6:c.3451C>A ENSP00000399851.2:p.Leu1151Met
ENST00000530292.2:c.535C>A ENSP00000432885.1:p.Leu179Met
ENST00000631044.2:c.*2875C>A ENSP00000486730.1:n.*2875C>A
NM_001126131.1:c.3451C>A NP_001119603.1:p.Leu1151Met
NM_002693.2:c.3451C>A NP_002684.1:p.Leu1151Met
NM_001126131.2:c.3451C>A NP_001119603.1:p.Leu1151Met
NM_002693.3:c.3451C>A MANE Select NP_002684.1:p.Leu1151Met