Canonical Allele Identifier: CA393756436

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89322827C>G , CM000677.2:g.89322827C>G	GRCh38
NC_000015.9:g.89866058C>G , CM000677.1:g.89866058C>G	GRCh37
NC_000015.8:g.87667062C>G	NCBI36
NG_008218.1:g.16969G>C
NG_008218.2:g.16969G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2341G>C MANE Select	NP_002684.1:p.Ala781Pro
ENST00000268124.11:c.2341G>C MANE Select	ENSP00000268124.5:p.Ala781Pro
NM_001126131.1:c.2341G>C	NP_001119603.1:p.Ala781Pro
NM_001126131.2:c.2341G>C	NP_001119603.1:p.Ala781Pro
NM_002693.2:c.2341G>C	NP_002684.1:p.Ala781Pro
ENST00000268124.9:c.2341G>C	ENSP00000268124.5:p.Ala781Pro
ENST00000442287.6:c.2341G>C	ENSP00000399851.2:p.Ala781Pro
ENST00000526314.2:c.615G>C
ENST00000526398.1:c.490G>C
ENST00000528881.2:c.110G>C
ENST00000530292.3:c.1942G>C	ENSP00000432885.2:p.Ala648Pro
ENST00000530715.5:c.100G>C	ENSP00000431395.1:p.Ala34Pro
ENST00000532584.5:n.467+577G>C
ENST00000631044.2:c.*1765G>C	ENSP00000486730.1:n.*1765G>C
ENST00000635986.2:c.2341G>C	ENSP00000490653.2:p.Ala781Pro
ENST00000636774.1:c.*908G>C	ENSP00000489799.1:n.*908G>C
ENST00000636937.2:c.2341G>C	ENSP00000516154.1:p.Ala781Pro
ENST00000637238.1:c.1038G>C	ENSP00000490756.1:n.1038G>C
ENST00000637264.1:c.1413G>C
ENST00000666746.1:c.1918G>C
ENST00000670281.1:c.661G>C	ENSP00000499709.1:p.Ala221Pro
ENST00000672071.1:n.2539G>C
ENST00000672923.2:n.2368+577G>C