Canonical Allele Identifier: CA7725108
Community Standard Title: NM_002693.3(POLG):c.484C>T (p.Leu162=)
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333271G>A , CM000677.2:g.89333271G>A GRCh38
NC_000015.9:g.89876502G>A , CM000677.1:g.89876502G>A GRCh37
NC_000015.8:g.87677506G>A NCBI36
NG_008218.1:g.6525C>T
NG_008218.2:g.6525C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.484C>T (POLG) MANE Select NP_002684.1:p.Leu162=
ENST00000268124.11:c.484C>T (POLG) MANE Select ENSP00000268124.5:p.Leu162=
NM_001126131.1:c.484C>T (POLG) NP_001119603.1:p.Leu162=
NM_001126131.2:c.484C>T (POLG) NP_001119603.1:p.Leu162=
NM_002693.2:c.484C>T (POLG) NP_002684.1:p.Leu162=
ENST00000268124.9:c.484C>T (POLG) ENSP00000268124.5:p.Leu162=
ENST00000442287.6:c.484C>T (POLG) ENSP00000399851.2:p.Leu162=
ENST00000530292.3:c.85C>T (POLG) ENSP00000432885.2:p.Leu29=
ENST00000631044.2:c.484C>T (POLG) ENSP00000486730.1:p.Leu162=
ENST00000635986.2:c.484C>T (POLG) ENSP00000490653.2:p.Leu162=
ENST00000636774.1:c.484C>T (POLG) ENSP00000489799.1:p.Leu162=
ENST00000636937.2:c.484C>T (POLG) ENSP00000516154.1:p.Leu162=
ENST00000650303.2:c.539C>T (POLG) ENSP00000497242.2:p.Ala180Val
ENST00000666746.1:c.141C>T (POLG)
ENST00000672071.1:n.682C>T (POLG)
ENST00000706918.1:c.539C>T (POLGARF) ENSP00000516626.1:p.Ala180Val