Canonical Allele Identifier: CA393753097

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320955A>C , CM000677.2:g.89320955A>C	GRCh38
NC_000015.9:g.89864186A>C , CM000677.1:g.89864186A>C	GRCh37
NC_000015.8:g.87665190A>C	NCBI36
NG_008218.1:g.18841T>G
NG_008218.2:g.18841T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2792T>G MANE Select	NP_002684.1:p.Leu931Arg
ENST00000268124.11:c.2792T>G MANE Select	ENSP00000268124.5:p.Leu931Arg
NM_001126131.1:c.2792T>G	NP_001119603.1:p.Leu931Arg
NM_001126131.2:c.2792T>G	NP_001119603.1:p.Leu931Arg
NM_002693.2:c.2792T>G	NP_002684.1:p.Leu931Arg
ENST00000268124.9:c.2792T>G	ENSP00000268124.5:p.Leu931Arg
ENST00000442287.6:c.2792T>G	ENSP00000399851.2:p.Leu931Arg
ENST00000528881.2:c.389T>G
ENST00000530292.3:c.2393T>G	ENSP00000432885.2:p.Leu798Arg
ENST00000530715.5:c.186-86T>G	ENSP00000431395.1:n.186-86T>G
ENST00000631044.2:c.*2216T>G	ENSP00000486730.1:n.*2216T>G
ENST00000635986.2:c.2792T>G	ENSP00000490653.2:p.Leu931Arg
ENST00000636774.1:c.*1359T>G	ENSP00000489799.1:n.*1359T>G
ENST00000636937.2:c.2792T>G	ENSP00000516154.1:p.Leu931Arg
ENST00000637238.1:c.1601T>G	ENSP00000490756.1:n.1601T>G
ENST00000637264.1:c.1864T>G
ENST00000666746.1:c.2369T>G
ENST00000670281.1:c.800+1007T>G	ENSP00000499709.1:n.800+1007T>G
ENST00000672071.1:n.2990T>G
ENST00000672923.2:n.2734T>G