Canonical Allele Identifier: CA492289929
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89876500C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333269C>G , CM000677.2:g.89333269C>G GRCh38
NC_000015.9:g.89876500C>G , CM000677.1:g.89876500C>G GRCh37
NC_000015.8:g.87677504C>G NCBI36
NG_008218.1:g.6527G>C
NG_008218.2:g.6527G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.486G>C (POLG) ENSP00000516154.1:p.Leu162=
ENST00000706918.1:c.541G>C (POLGARF) ENSP00000516626.1:p.Ala181Pro
ENST00000268124.11:c.486G>C (POLG) MANE Select ENSP00000268124.5:p.Leu162=
ENST00000530292.3:c.87G>C (POLG) ENSP00000432885.2:p.Leu29=
ENST00000635986.2:c.486G>C (POLG) ENSP00000490653.2:p.Leu162=
ENST00000636774.1:c.486G>C (POLG) ENSP00000489799.1:p.Leu162=
ENST00000650303.2:c.541G>C (POLG) ENSP00000497242.2:p.Ala181Pro
ENST00000666746.1:c.143G>C (POLG)
ENST00000672071.1:n.684G>C (POLG)
ENST00000268124.9:c.486G>C (POLG) ENSP00000268124.5:p.Leu162=
ENST00000442287.6:c.486G>C (POLG) ENSP00000399851.2:p.Leu162=
ENST00000631044.2:c.486G>C (POLG) ENSP00000486730.1:p.Leu162=
NM_001126131.1:c.486G>C (POLG) NP_001119603.1:p.Leu162=
NM_002693.2:c.486G>C (POLG) NP_002684.1:p.Leu162=
NM_001126131.2:c.486G>C (POLG) NP_001119603.1:p.Leu162=
NM_002693.3:c.486G>C (POLG) MANE Select NP_002684.1:p.Leu162=