Canonical Allele Identifier: CA393749925

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861905T>C (hg19) ; chr15:g.89318674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318674T>C , CM000677.2:g.89318674T>C	GRCh38
NC_000015.9:g.89861905T>C , CM000677.1:g.89861905T>C	GRCh37
NC_000015.8:g.87662909T>C	NCBI36
NG_008218.1:g.21122A>G
NG_011736.1:g.79712T>C , LRG_500:g.79712T>C
NG_008218.2:g.21122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3349A>G	ENSP00000516154.1:p.Lys1117Glu
ENST00000268124.11:c.3349A>G MANE Select	ENSP00000268124.5:p.Lys1117Glu
ENST00000530292.3:c.2950A>G	ENSP00000432885.2:p.Lys984Glu
ENST00000635986.2:c.*419A>G	ENSP00000490653.2:n.*419A>G
ENST00000636774.1:c.*1916A>G	ENSP00000489799.1:n.*1916A>G
ENST00000637238.1:c.2158A>G	ENSP00000490756.1:n.2158A>G
ENST00000637264.1:c.2421A>G
ENST00000666746.1:c.2926A>G
ENST00000672071.1:n.3547A>G
ENST00000672695.1:n.526A>G
ENST00000672923.2:n.3349A>G
ENST00000268124.9:c.3349A>G	ENSP00000268124.5:p.Lys1117Glu
ENST00000442287.6:c.3349A>G	ENSP00000399851.2:p.Lys1117Glu
ENST00000530292.2:c.433A>G	ENSP00000432885.1:p.Lys145Glu
ENST00000631044.2:c.*2773A>G	ENSP00000486730.1:n.*2773A>G
NM_001126131.1:c.3349A>G	NP_001119603.1:p.Lys1117Glu
NM_002693.2:c.3349A>G	NP_002684.1:p.Lys1117Glu
NM_001126131.2:c.3349A>G	NP_001119603.1:p.Lys1117Glu
NM_002693.3:c.3349A>G MANE Select	NP_002684.1:p.Lys1117Glu