Canonical Allele Identifier: CA393752930

Gene: POLG

Linked Data

• COSMIC: COSM471215
• MyVariant Identifiers: chr15:g.89864148C>G (hg19) ; chr15:g.89320917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320917C>G , CM000677.2:g.89320917C>G	GRCh38
NC_000015.9:g.89864148C>G , CM000677.1:g.89864148C>G	GRCh37
NC_000015.8:g.87665152C>G	NCBI36
NG_008218.1:g.18879G>C
NG_008218.2:g.18879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2830G>C	ENSP00000516154.1:p.Glu944Gln
ENST00000268124.11:c.2830G>C MANE Select	ENSP00000268124.5:p.Glu944Gln
ENST00000530292.3:c.2431G>C	ENSP00000432885.2:p.Glu811Gln
ENST00000635986.2:c.2830G>C	ENSP00000490653.2:p.Glu944Gln
ENST00000636774.1:c.*1397G>C	ENSP00000489799.1:n.*1397G>C
ENST00000637238.1:c.1639G>C	ENSP00000490756.1:n.1639G>C
ENST00000637264.1:c.1902G>C
ENST00000666746.1:c.2407G>C
ENST00000670281.1:c.800+1045G>C	ENSP00000499709.1:n.800+1045G>C
ENST00000672071.1:n.3028G>C
ENST00000672695.1:n.7G>C
ENST00000672923.2:n.2772G>C
ENST00000268124.9:c.2830G>C	ENSP00000268124.5:p.Glu944Gln
ENST00000442287.6:c.2830G>C	ENSP00000399851.2:p.Glu944Gln
ENST00000528881.2:c.427G>C
ENST00000530715.5:c.186-48G>C	ENSP00000431395.1:n.186-48G>C
ENST00000631044.2:c.*2254G>C	ENSP00000486730.1:n.*2254G>C
NM_001126131.1:c.2830G>C	NP_001119603.1:p.Glu944Gln
NM_002693.2:c.2830G>C	NP_002684.1:p.Glu944Gln
NM_001126131.2:c.2830G>C	NP_001119603.1:p.Glu944Gln
NM_002693.3:c.2830G>C MANE Select	NP_002684.1:p.Glu944Gln