Canonical Allele Identifier: CA393750411

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318936C>A , CM000677.2:g.89318936C>A	GRCh38
NC_000015.9:g.89862167C>A , CM000677.1:g.89862167C>A	GRCh37
NC_000015.8:g.87663171C>A	NCBI36
NG_008218.1:g.20860G>T
NG_011736.1:g.79974C>A , LRG_500:g.79974C>A
NG_008218.2:g.20860G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3268G>T MANE Select	NP_002684.1:p.Glu1090Ter
ENST00000268124.11:c.3268G>T MANE Select	ENSP00000268124.5:p.Glu1090Ter
NM_001126131.1:c.3268G>T	NP_001119603.1:p.Glu1090Ter
NM_001126131.2:c.3268G>T	NP_001119603.1:p.Glu1090Ter
NM_002693.2:c.3268G>T	NP_002684.1:p.Glu1090Ter
ENST00000268124.9:c.3268G>T	ENSP00000268124.5:p.Glu1090Ter
ENST00000442287.6:c.3268G>T	ENSP00000399851.2:p.Glu1090Ter
ENST00000530292.2:c.352G>T	ENSP00000432885.1:p.Glu118Ter
ENST00000530292.3:c.2869G>T	ENSP00000432885.2:p.Glu957Ter
ENST00000631044.2:c.*2692G>T	ENSP00000486730.1:n.*2692G>T
ENST00000635986.2:c.*338G>T	ENSP00000490653.2:n.*338G>T
ENST00000636774.1:c.*1835G>T	ENSP00000489799.1:n.*1835G>T
ENST00000636937.2:c.3268G>T	ENSP00000516154.1:p.Glu1090Ter
ENST00000637238.1:c.2077G>T	ENSP00000490756.1:n.2077G>T
ENST00000637264.1:c.2340G>T
ENST00000666746.1:c.2845G>T
ENST00000672071.1:n.3466G>T
ENST00000672695.1:n.445G>T
ENST00000672923.2:n.3268G>T