Canonical Allele Identifier: CA393756681

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323430A>G , CM000677.2:g.89323430A>G	GRCh38
NC_000015.9:g.89866661A>G , CM000677.1:g.89866661A>G	GRCh37
NC_000015.8:g.87667665A>G	NCBI36
NG_008218.1:g.16366T>C
NG_008218.2:g.16366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2239T>C	ENSP00000516154.1:p.Cys747Arg
ENST00000268124.11:c.2239T>C MANE Select	ENSP00000268124.5:p.Cys747Arg
ENST00000530292.3:c.1840T>C	ENSP00000432885.2:p.Cys614Arg
ENST00000635986.2:c.2239T>C	ENSP00000490653.2:p.Cys747Arg
ENST00000636774.1:c.*806T>C	ENSP00000489799.1:n.*806T>C
ENST00000637238.1:c.936T>C	ENSP00000490756.1:n.936T>C
ENST00000637264.1:c.1311T>C
ENST00000666746.1:c.1816T>C
ENST00000670281.1:c.559T>C	ENSP00000499709.1:p.Cys187Arg
ENST00000672071.1:n.2437T>C
ENST00000672923.2:n.2342T>C
ENST00000268124.9:c.2239T>C	ENSP00000268124.5:p.Cys747Arg
ENST00000442287.6:c.2239T>C	ENSP00000399851.2:p.Cys747Arg
ENST00000526314.2:c.539+385T>C
ENST00000526398.1:c.388T>C
ENST00000528881.2:c.8T>C
ENST00000532584.5:n.441T>C
ENST00000631044.2:c.*1663T>C	ENSP00000486730.1:n.*1663T>C
NM_001126131.1:c.2239T>C	NP_001119603.1:p.Cys747Arg
NM_002693.2:c.2239T>C	NP_002684.1:p.Cys747Arg
NM_001126131.2:c.2239T>C	NP_001119603.1:p.Cys747Arg
NM_002693.3:c.2239T>C MANE Select	NP_002684.1:p.Cys747Arg