Canonical Allele Identifier: CA492289800
Gene: POLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89871981A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328750A>G , CM000677.2:g.89328750A>G GRCh38
NC_000015.9:g.89871981A>G , CM000677.1:g.89871981A>G GRCh37
NC_000015.8:g.87672985A>G NCBI36
NG_008218.1:g.11046T>C
NG_008218.2:g.11046T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1105T>C ENSP00000516154.1:p.Leu369=
ENST00000268124.11:c.1105T>C MANE Select ENSP00000268124.5:p.Leu369=
ENST00000530292.3:c.706T>C ENSP00000432885.2:p.Leu236=
ENST00000635986.2:c.1105T>C ENSP00000490653.2:p.Leu369=
ENST00000636774.1:c.1105T>C ENSP00000489799.1:p.Leu369=
ENST00000637264.1:c.177T>C
ENST00000666746.1:c.762T>C
ENST00000672071.1:n.1303T>C
ENST00000672923.2:n.102T>C
ENST00000268124.9:c.1105T>C ENSP00000268124.5:p.Leu369=
ENST00000442287.6:c.1105T>C ENSP00000399851.2:p.Leu369=
ENST00000631044.2:c.*488T>C ENSP00000486730.1:n.*488T>C
NM_001126131.1:c.1105T>C NP_001119603.1:p.Leu369=
NM_002693.2:c.1105T>C NP_002684.1:p.Leu369=
NM_001126131.2:c.1105T>C NP_001119603.1:p.Leu369=
NM_002693.3:c.1105T>C MANE Select NP_002684.1:p.Leu369=