Canonical Allele Identifier: CA393751088

Gene: POLG

Linked Data

• ClinVar Variation Id: 2824099
• ClinVar RCV Id: RCV003628046
• MyVariant Identifiers: chr15:g.89862299C>G (hg19) ; chr15:g.89319068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319068C>G , CM000677.2:g.89319068C>G	GRCh38
NC_000015.9:g.89862299C>G , CM000677.1:g.89862299C>G	GRCh37
NC_000015.8:g.87663303C>G	NCBI36
NG_008218.1:g.20728G>C
NG_011736.1:g.80106C>G , LRG_500:g.80106C>G
NG_008218.2:g.20728G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3136G>C	ENSP00000516154.1:p.Glu1046Gln
ENST00000268124.11:c.3136G>C MANE Select	ENSP00000268124.5:p.Glu1046Gln
ENST00000530292.3:c.2737G>C	ENSP00000432885.2:p.Glu913Gln
ENST00000635986.2:c.*206G>C	ENSP00000490653.2:n.*206G>C
ENST00000636530.1:n.96G>C
ENST00000636774.1:c.*1703G>C	ENSP00000489799.1:n.*1703G>C
ENST00000637238.1:c.1945G>C	ENSP00000490756.1:n.1945G>C
ENST00000637264.1:c.2208G>C
ENST00000666746.1:c.2713G>C
ENST00000672071.1:n.3334G>C
ENST00000672695.1:n.313G>C
ENST00000672923.2:n.3136G>C
ENST00000268124.9:c.3136G>C	ENSP00000268124.5:p.Glu1046Gln
ENST00000442287.6:c.3136G>C	ENSP00000399851.2:p.Glu1046Gln
ENST00000530292.2:c.220G>C	ENSP00000432885.1:p.Glu74Gln
ENST00000631044.2:c.*2560G>C	ENSP00000486730.1:n.*2560G>C
NM_001126131.1:c.3136G>C	NP_001119603.1:p.Glu1046Gln
NM_002693.2:c.3136G>C	NP_002684.1:p.Glu1046Gln
NM_001126131.2:c.3136G>C	NP_001119603.1:p.Glu1046Gln
NM_002693.3:c.3136G>C MANE Select	NP_002684.1:p.Glu1046Gln