Canonical Allele Identifier: CA393754168

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321743T>A , CM000677.2:g.89321743T>A	GRCh38
NC_000015.9:g.89864974T>A , CM000677.1:g.89864974T>A	GRCh37
NC_000015.8:g.87665978T>A	NCBI36
NG_008218.1:g.18053A>T
NG_008218.2:g.18053A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2591A>T	ENSP00000516154.1:p.Asn864Ile
ENST00000268124.11:c.2591A>T MANE Select	ENSP00000268124.5:p.Asn864Ile
ENST00000530292.3:c.2192A>T	ENSP00000432885.2:p.Asn731Ile
ENST00000635986.2:c.2591A>T	ENSP00000490653.2:p.Asn864Ile
ENST00000636774.1:c.*1158A>T	ENSP00000489799.1:n.*1158A>T
ENST00000637238.1:c.1288A>T	ENSP00000490756.1:n.1288A>T
ENST00000637264.1:c.1663A>T
ENST00000666746.1:c.2168A>T
ENST00000670281.1:c.800+219A>T	ENSP00000499709.1:n.800+219A>T
ENST00000672071.1:n.2789A>T
ENST00000672923.2:n.2533A>T
ENST00000268124.9:c.2591A>T	ENSP00000268124.5:p.Asn864Ile
ENST00000442287.6:c.2591A>T	ENSP00000399851.2:p.Asn864Ile
ENST00000528881.2:c.196-483A>T
ENST00000530715.5:c.186-874A>T	ENSP00000431395.1:n.186-874A>T
ENST00000631044.2:c.*2015A>T	ENSP00000486730.1:n.*2015A>T
NM_001126131.1:c.2591A>T	NP_001119603.1:p.Asn864Ile
NM_002693.2:c.2591A>T	NP_002684.1:p.Asn864Ile
NM_001126131.2:c.2591A>T	NP_001119603.1:p.Asn864Ile
NM_002693.3:c.2591A>T MANE Select	NP_002684.1:p.Asn864Ile