Canonical Allele Identifier: CA7724142

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318596C>G , CM000677.2:g.89318596C>G	GRCh38
NC_000015.9:g.89861827C>G , CM000677.1:g.89861827C>G	GRCh37
NC_000015.8:g.87662831C>G	NCBI36
NG_008218.1:g.21200G>C
NG_011736.1:g.79634C>G , LRG_500:g.79634C>G
NG_008218.2:g.21200G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3427G>C MANE Select	NP_002684.1:p.Glu1143Gln
ENST00000268124.11:c.3427G>C MANE Select	ENSP00000268124.5:p.Glu1143Gln
NM_001126131.1:c.3427G>C	NP_001119603.1:p.Glu1143Gln
NM_001126131.2:c.3427G>C	NP_001119603.1:p.Glu1143Gln
NM_002693.2:c.3427G>C	NP_002684.1:p.Glu1143Gln
ENST00000268124.9:c.3427G>C	ENSP00000268124.5:p.Glu1143Gln
ENST00000442287.6:c.3427G>C	ENSP00000399851.2:p.Glu1143Gln
ENST00000530292.2:c.511G>C	ENSP00000432885.1:p.Glu171Gln
ENST00000530292.3:c.3028G>C	ENSP00000432885.2:p.Glu1010Gln
ENST00000631044.2:c.*2851G>C	ENSP00000486730.1:n.*2851G>C
ENST00000635986.2:c.*497G>C	ENSP00000490653.2:n.*497G>C
ENST00000636774.1:c.*1994G>C	ENSP00000489799.1:n.*1994G>C
ENST00000636937.2:c.3427G>C	ENSP00000516154.1:p.Glu1143Gln
ENST00000637238.1:c.2236G>C	ENSP00000490756.1:n.2236G>C
ENST00000637264.1:c.2499G>C
ENST00000666746.1:c.3004G>C
ENST00000672071.1:n.3625G>C
ENST00000672695.1:n.604G>C
ENST00000672923.2:n.3427G>C