Canonical Allele Identifier: CA393749943

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861916A>C (hg19) ; chr15:g.89318685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318685A>C , CM000677.2:g.89318685A>C	GRCh38
NC_000015.9:g.89861916A>C , CM000677.1:g.89861916A>C	GRCh37
NC_000015.8:g.87662920A>C	NCBI36
NG_008218.1:g.21111T>G
NG_011736.1:g.79723A>C , LRG_500:g.79723A>C
NG_008218.2:g.21111T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3338T>G	ENSP00000516154.1:p.Leu1113Arg
ENST00000268124.11:c.3338T>G MANE Select	ENSP00000268124.5:p.Leu1113Arg
ENST00000530292.3:c.2939T>G	ENSP00000432885.2:p.Leu980Arg
ENST00000635986.2:c.*408T>G	ENSP00000490653.2:n.*408T>G
ENST00000636774.1:c.*1905T>G	ENSP00000489799.1:n.*1905T>G
ENST00000637238.1:c.2147T>G	ENSP00000490756.1:n.2147T>G
ENST00000637264.1:c.2410T>G
ENST00000666746.1:c.2915T>G
ENST00000672071.1:n.3536T>G
ENST00000672695.1:n.515T>G
ENST00000672923.2:n.3338T>G
ENST00000268124.9:c.3338T>G	ENSP00000268124.5:p.Leu1113Arg
ENST00000442287.6:c.3338T>G	ENSP00000399851.2:p.Leu1113Arg
ENST00000530292.2:c.422T>G	ENSP00000432885.1:p.Leu141Arg
ENST00000631044.2:c.*2762T>G	ENSP00000486730.1:n.*2762T>G
NM_001126131.1:c.3338T>G	NP_001119603.1:p.Leu1113Arg
NM_002693.2:c.3338T>G	NP_002684.1:p.Leu1113Arg
NM_001126131.2:c.3338T>G	NP_001119603.1:p.Leu1113Arg
NM_002693.3:c.3338T>G MANE Select	NP_002684.1:p.Leu1113Arg