Canonical Allele Identifier: CA492289815
Gene: POLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89872000A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328769A>C , CM000677.2:g.89328769A>C GRCh38
NC_000015.9:g.89872000A>C , CM000677.1:g.89872000A>C GRCh37
NC_000015.8:g.87673004A>C NCBI36
NG_008218.1:g.11027T>G
NG_008218.2:g.11027T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1086T>G ENSP00000516154.1:p.Leu362=
ENST00000268124.11:c.1086T>G MANE Select ENSP00000268124.5:p.Leu362=
ENST00000530292.3:c.687T>G ENSP00000432885.2:p.Leu229=
ENST00000635986.2:c.1086T>G ENSP00000490653.2:p.Leu362=
ENST00000636774.1:c.1086T>G ENSP00000489799.1:p.Leu362=
ENST00000637264.1:c.158T>G
ENST00000666746.1:c.743T>G
ENST00000672071.1:n.1284T>G
ENST00000672923.2:n.83T>G
ENST00000268124.9:c.1086T>G ENSP00000268124.5:p.Leu362=
ENST00000442287.6:c.1086T>G ENSP00000399851.2:p.Leu362=
ENST00000631044.2:c.*469T>G ENSP00000486730.1:n.*469T>G
NM_001126131.1:c.1086T>G NP_001119603.1:p.Leu362=
NM_002693.2:c.1086T>G NP_002684.1:p.Leu362=
NM_001126131.2:c.1086T>G NP_001119603.1:p.Leu362=
NM_002693.3:c.1086T>G MANE Select NP_002684.1:p.Leu362=