Canonical Allele Identifier: CA10602199

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326676G>C , CM000677.2:g.89326676G>C	GRCh38
NC_000015.9:g.89869907G>C , CM000677.1:g.89869907G>C	GRCh37
NC_000015.8:g.87670911G>C	NCBI36
NG_008218.1:g.13120C>G
NG_008218.2:g.13120C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1648C>G MANE Select	NP_002684.1:p.Gln550Glu
ENST00000268124.11:c.1648C>G MANE Select	ENSP00000268124.5:p.Gln550Glu
NM_001126131.1:c.1648C>G	NP_001119603.1:p.Gln550Glu
NM_001126131.2:c.1648C>G	NP_001119603.1:p.Gln550Glu
NM_002693.2:c.1648C>G	NP_002684.1:p.Gln550Glu
ENST00000268124.9:c.1648C>G	ENSP00000268124.5:p.Gln550Glu
ENST00000442287.6:c.1648C>G	ENSP00000399851.2:p.Gln550Glu
ENST00000526314.2:c.30C>G
ENST00000530292.3:c.1249C>G	ENSP00000432885.2:p.Gln417Glu
ENST00000631044.2:c.*1031C>G	ENSP00000486730.1:n.*1031C>G
ENST00000635986.2:c.1648C>G	ENSP00000490653.2:p.Gln550Glu
ENST00000636774.1:c.*215C>G	ENSP00000489799.1:n.*215C>G
ENST00000636937.2:c.1648C>G	ENSP00000516154.1:p.Gln550Glu
ENST00000637238.1:c.385C>G	ENSP00000490756.1:p.Gln129Glu
ENST00000637264.1:c.720C>G
ENST00000666746.1:c.1225C>G
ENST00000672071.1:n.1846C>G
ENST00000672923.2:n.1751C>G