Canonical Allele Identifier: CA492076213

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866644C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323413C>G , CM000677.2:g.89323413C>G	GRCh38
NC_000015.9:g.89866644C>G , CM000677.1:g.89866644C>G	GRCh37
NC_000015.8:g.87667648C>G	NCBI36
NG_008218.1:g.16383G>C
NG_008218.2:g.16383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2256G>C	ENSP00000516154.1:p.Leu752=
ENST00000268124.11:c.2256G>C MANE Select	ENSP00000268124.5:p.Leu752=
ENST00000530292.3:c.1857G>C	ENSP00000432885.2:p.Leu619=
ENST00000635986.2:c.2256G>C	ENSP00000490653.2:p.Leu752=
ENST00000636774.1:c.*823G>C	ENSP00000489799.1:n.*823G>C
ENST00000637238.1:c.953G>C	ENSP00000490756.1:n.953G>C
ENST00000637264.1:c.1328G>C
ENST00000666746.1:c.1833G>C
ENST00000670281.1:c.576G>C	ENSP00000499709.1:p.Leu192=
ENST00000672071.1:n.2454G>C
ENST00000672923.2:n.2359G>C
ENST00000268124.9:c.2256G>C	ENSP00000268124.5:p.Leu752=
ENST00000442287.6:c.2256G>C	ENSP00000399851.2:p.Leu752=
ENST00000526314.2:c.539+402G>C
ENST00000526398.1:c.405G>C
ENST00000528881.2:c.25G>C
ENST00000530715.5:c.15G>C	ENSP00000431395.1:p.Leu5=
ENST00000532584.5:n.458G>C
ENST00000631044.2:c.*1680G>C	ENSP00000486730.1:n.*1680G>C
NM_001126131.1:c.2256G>C	NP_001119603.1:p.Leu752=
NM_002693.2:c.2256G>C	NP_002684.1:p.Leu752=
NM_001126131.2:c.2256G>C	NP_001119603.1:p.Leu752=
NM_002693.3:c.2256G>C MANE Select	NP_002684.1:p.Leu752=