Canonical Allele Identifier: CA393756188

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89322748C>G , CM000677.2:g.89322748C>G	GRCh38
NC_000015.9:g.89865979C>G , CM000677.1:g.89865979C>G	GRCh37
NC_000015.8:g.87666983C>G	NCBI36
NG_008218.1:g.17048G>C
NG_008218.2:g.17048G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2420G>C MANE Select	NP_002684.1:p.Arg807Pro
ENST00000268124.11:c.2420G>C MANE Select	ENSP00000268124.5:p.Arg807Pro
NM_001126131.1:c.2420G>C	NP_001119603.1:p.Arg807Pro
NM_001126131.2:c.2420G>C	NP_001119603.1:p.Arg807Pro
NM_002693.2:c.2420G>C	NP_002684.1:p.Arg807Pro
ENST00000268124.9:c.2420G>C	ENSP00000268124.5:p.Arg807Pro
ENST00000442287.6:c.2420G>C	ENSP00000399851.2:p.Arg807Pro
ENST00000526314.2:c.694G>C
ENST00000528881.2:c.189G>C
ENST00000530292.3:c.2021G>C	ENSP00000432885.2:p.Arg674Pro
ENST00000530715.5:c.179G>C	ENSP00000431395.1:p.Arg60Pro
ENST00000532584.5:n.467+656G>C
ENST00000631044.2:c.*1844G>C	ENSP00000486730.1:n.*1844G>C
ENST00000635986.2:c.2420G>C	ENSP00000490653.2:p.Arg807Pro
ENST00000636774.1:c.*987G>C	ENSP00000489799.1:n.*987G>C
ENST00000636937.2:c.2420G>C	ENSP00000516154.1:p.Arg807Pro
ENST00000637238.1:c.1117G>C	ENSP00000490756.1:n.1117G>C
ENST00000637264.1:c.1492G>C
ENST00000666746.1:c.1997G>C
ENST00000670281.1:c.740G>C	ENSP00000499709.1:p.Arg247Pro
ENST00000672071.1:n.2618G>C
ENST00000672923.2:n.2368+656G>C