Canonical Allele Identifier: CA393749924

Gene: POLG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3349A>C	ENSP00000516154.1:p.Lys1117Gln
ENST00000268124.11:c.3349A>C MANE Select	ENSP00000268124.5:p.Lys1117Gln
ENST00000530292.3:c.2950A>C	ENSP00000432885.2:p.Lys984Gln
ENST00000635986.2:c.*419A>C	ENSP00000490653.2:n.*419A>C
ENST00000636774.1:c.*1916A>C	ENSP00000489799.1:n.*1916A>C
ENST00000637238.1:c.2158A>C	ENSP00000490756.1:n.2158A>C
ENST00000637264.1:c.2421A>C
ENST00000666746.1:c.2926A>C
ENST00000672071.1:n.3547A>C
ENST00000672695.1:n.526A>C
ENST00000672923.2:n.3349A>C
ENST00000268124.9:c.3349A>C	ENSP00000268124.5:p.Lys1117Gln
ENST00000442287.6:c.3349A>C	ENSP00000399851.2:p.Lys1117Gln
ENST00000530292.2:c.433A>C	ENSP00000432885.1:p.Lys145Gln
ENST00000631044.2:c.*2773A>C	ENSP00000486730.1:n.*2773A>C
NM_001126131.1:c.3349A>C	NP_001119603.1:p.Lys1117Gln
NM_002693.2:c.3349A>C	NP_002684.1:p.Lys1117Gln
NM_001126131.2:c.3349A>C	NP_001119603.1:p.Lys1117Gln
NM_002693.3:c.3349A>C MANE Select	NP_002684.1:p.Lys1117Gln