Canonical Allele Identifier: CA393749847

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861869A>T (hg19) ; chr15:g.89318638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318638A>T , CM000677.2:g.89318638A>T	GRCh38
NC_000015.9:g.89861869A>T , CM000677.1:g.89861869A>T	GRCh37
NC_000015.8:g.87662873A>T	NCBI36
NG_008218.1:g.21158T>A
NG_011736.1:g.79676A>T , LRG_500:g.79676A>T
NG_008218.2:g.21158T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3385T>A	ENSP00000516154.1:p.Phe1129Ile
ENST00000268124.11:c.3385T>A MANE Select	ENSP00000268124.5:p.Phe1129Ile
ENST00000530292.3:c.2986T>A	ENSP00000432885.2:p.Phe996Ile
ENST00000635986.2:c.*455T>A	ENSP00000490653.2:n.*455T>A
ENST00000636774.1:c.*1952T>A	ENSP00000489799.1:n.*1952T>A
ENST00000637238.1:c.2194T>A	ENSP00000490756.1:n.2194T>A
ENST00000637264.1:c.2457T>A
ENST00000666746.1:c.2962T>A
ENST00000672071.1:n.3583T>A
ENST00000672695.1:n.562T>A
ENST00000672923.2:n.3385T>A
ENST00000268124.9:c.3385T>A	ENSP00000268124.5:p.Phe1129Ile
ENST00000442287.6:c.3385T>A	ENSP00000399851.2:p.Phe1129Ile
ENST00000530292.2:c.469T>A	ENSP00000432885.1:p.Phe157Ile
ENST00000631044.2:c.*2809T>A	ENSP00000486730.1:n.*2809T>A
NM_001126131.1:c.3385T>A	NP_001119603.1:p.Phe1129Ile
NM_002693.2:c.3385T>A	NP_002684.1:p.Phe1129Ile
NM_001126131.2:c.3385T>A	NP_001119603.1:p.Phe1129Ile
NM_002693.3:c.3385T>A MANE Select	NP_002684.1:p.Phe1129Ile