Canonical Allele Identifier: CA393756510

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89322860A>G , CM000677.2:g.89322860A>G	GRCh38
NC_000015.9:g.89866091A>G , CM000677.1:g.89866091A>G	GRCh37
NC_000015.8:g.87667095A>G	NCBI36
NG_008218.1:g.16936T>C
NG_008218.2:g.16936T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2308T>C MANE Select	NP_002684.1:p.Phe770Leu
ENST00000268124.11:c.2308T>C MANE Select	ENSP00000268124.5:p.Phe770Leu
NM_001126131.1:c.2308T>C	NP_001119603.1:p.Phe770Leu
NM_001126131.2:c.2308T>C	NP_001119603.1:p.Phe770Leu
NM_002693.2:c.2308T>C	NP_002684.1:p.Phe770Leu
ENST00000268124.9:c.2308T>C	ENSP00000268124.5:p.Phe770Leu
ENST00000442287.6:c.2308T>C	ENSP00000399851.2:p.Phe770Leu
ENST00000526314.2:c.582T>C
ENST00000526398.1:c.457T>C
ENST00000528881.2:c.77T>C
ENST00000530292.3:c.1909T>C	ENSP00000432885.2:p.Phe637Leu
ENST00000530715.5:c.67T>C	ENSP00000431395.1:p.Phe23Leu
ENST00000532584.5:n.467+544T>C
ENST00000631044.2:c.*1732T>C	ENSP00000486730.1:n.*1732T>C
ENST00000635986.2:c.2308T>C	ENSP00000490653.2:p.Phe770Leu
ENST00000636774.1:c.*875T>C	ENSP00000489799.1:n.*875T>C
ENST00000636937.2:c.2308T>C	ENSP00000516154.1:p.Phe770Leu
ENST00000637238.1:c.1005T>C	ENSP00000490756.1:n.1005T>C
ENST00000637264.1:c.1380T>C
ENST00000666746.1:c.1885T>C
ENST00000670281.1:c.628T>C	ENSP00000499709.1:p.Phe210Leu
ENST00000672071.1:n.2506T>C
ENST00000672923.2:n.2368+544T>C