Canonical Allele Identifier: CA7724612

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89324137C>T , CM000677.2:g.89324137C>T	GRCh38
NC_000015.9:g.89867368C>T , CM000677.1:g.89867368C>T	GRCh37
NC_000015.8:g.87668372C>T	NCBI36
NG_008218.1:g.15659G>A
NG_008218.2:g.15659G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2040G>A MANE Select	NP_002684.1:p.Leu680=
ENST00000268124.11:c.2040G>A MANE Select	ENSP00000268124.5:p.Leu680=
NM_001126131.1:c.2040G>A	NP_001119603.1:p.Leu680=
NM_001126131.2:c.2040G>A	NP_001119603.1:p.Leu680=
NM_002693.2:c.2040G>A	NP_002684.1:p.Leu680=
ENST00000268124.9:c.2040G>A	ENSP00000268124.5:p.Leu680=
ENST00000442287.6:c.2040G>A	ENSP00000399851.2:p.Leu680=
ENST00000526314.2:c.422G>A
ENST00000526398.1:c.189G>A
ENST00000526573.1:n.126G>A
ENST00000530292.3:c.1641G>A	ENSP00000432885.2:p.Leu547=
ENST00000532584.5:n.242G>A
ENST00000533857.1:n.155G>A
ENST00000631044.2:c.*1423G>A	ENSP00000486730.1:n.*1423G>A
ENST00000635986.2:c.2040G>A	ENSP00000490653.2:p.Leu680=
ENST00000636774.1:c.*607G>A	ENSP00000489799.1:n.*607G>A
ENST00000636937.2:c.2040G>A	ENSP00000516154.1:p.Leu680=
ENST00000637238.1:c.737G>A	ENSP00000490756.1:n.737G>A
ENST00000637264.1:c.1112G>A
ENST00000666746.1:c.1617G>A
ENST00000670281.1:c.360G>A	ENSP00000499709.1:p.Leu120=
ENST00000672071.1:n.2238G>A
ENST00000672923.2:n.2143G>A