Canonical Allele Identifier: CA393747463

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317445C>A , CM000677.2:g.89317445C>A	GRCh38
NC_000015.9:g.89860676C>A , CM000677.1:g.89860676C>A	GRCh37
NC_000015.8:g.87661680C>A	NCBI36
NG_008218.1:g.22351G>T
NG_011736.1:g.78483C>A , LRG_500:g.78483C>A
NG_008218.2:g.22351G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3574G>T MANE Select	NP_002684.1:p.Glu1192Ter
ENST00000268124.11:c.3574G>T MANE Select	ENSP00000268124.5:p.Glu1192Ter
NM_001126131.1:c.3574G>T	NP_001119603.1:p.Glu1192Ter
NM_001126131.2:c.3574G>T	NP_001119603.1:p.Glu1192Ter
NM_002693.2:c.3574G>T	NP_002684.1:p.Glu1192Ter
ENST00000268124.9:c.3574G>T	ENSP00000268124.5:p.Glu1192Ter
ENST00000442287.6:c.3574G>T	ENSP00000399851.2:p.Glu1192Ter
ENST00000526671.1:n.384G>T
ENST00000530292.2:c.757G>T	ENSP00000432885.1:n.757G>T
ENST00000530292.3:c.3274G>T	ENSP00000432885.2:n.3274G>T
ENST00000631044.2:c.*2998G>T	ENSP00000486730.1:n.*2998G>T
ENST00000635986.2:c.*644G>T	ENSP00000490653.2:n.*644G>T
ENST00000636774.1:c.*2178G>T	ENSP00000489799.1:n.*2178G>T
ENST00000636937.2:c.3574G>T	ENSP00000516154.1:p.Glu1192Ter
ENST00000637042.1:n.98G>T
ENST00000637238.1:c.2482G>T	ENSP00000490756.1:n.2482G>T
ENST00000637264.1:c.2586G>T
ENST00000666746.1:c.3151G>T
ENST00000672071.1:n.4776G>T
ENST00000672695.1:n.1353G>T
ENST00000672923.2:n.3574G>T