Canonical Allele Identifier: CA274556112

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326954T>C , CM000677.2:g.89326954T>C	GRCh38
NC_000015.9:g.89870185T>C , CM000677.1:g.89870185T>C	GRCh37
NC_000015.8:g.87671189T>C	NCBI36
NG_008218.1:g.12842A>G
NG_008218.2:g.12842A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1543A>G MANE Select	NP_002684.1:p.Ile515Val
ENST00000268124.11:c.1543A>G MANE Select	ENSP00000268124.5:p.Ile515Val
NM_001126131.1:c.1543A>G	NP_001119603.1:p.Ile515Val
NM_001126131.2:c.1543A>G	NP_001119603.1:p.Ile515Val
NM_002693.2:c.1543A>G	NP_002684.1:p.Ile515Val
ENST00000268124.9:c.1543A>G	ENSP00000268124.5:p.Ile515Val
ENST00000442287.6:c.1543A>G	ENSP00000399851.2:p.Ile515Val
ENST00000530292.3:c.1144A>G	ENSP00000432885.2:p.Ile382Val
ENST00000631044.2:c.*926A>G	ENSP00000486730.1:n.*926A>G
ENST00000635986.2:c.1543A>G	ENSP00000490653.2:p.Ile515Val
ENST00000636774.1:c.*110A>G	ENSP00000489799.1:n.*110A>G
ENST00000636937.2:c.1543A>G	ENSP00000516154.1:p.Ile515Val
ENST00000637238.1:c.280A>G	ENSP00000490756.1:p.Ile94Val
ENST00000637264.1:c.615A>G
ENST00000666746.1:c.1120A>G
ENST00000672071.1:n.1741A>G
ENST00000672923.2:n.1646A>G