Canonical Allele Identifier: CA393753305

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89864230A>C (hg19) ; chr15:g.89320999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320999A>C , CM000677.2:g.89320999A>C	GRCh38
NC_000015.9:g.89864230A>C , CM000677.1:g.89864230A>C	GRCh37
NC_000015.8:g.87665234A>C	NCBI36
NG_008218.1:g.18797T>G
NG_008218.2:g.18797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2748T>G	ENSP00000516154.1:p.Phe916Leu
ENST00000268124.11:c.2748T>G MANE Select	ENSP00000268124.5:p.Phe916Leu
ENST00000530292.3:c.2349T>G	ENSP00000432885.2:p.Phe783Leu
ENST00000635986.2:c.2748T>G	ENSP00000490653.2:p.Phe916Leu
ENST00000636774.1:c.*1315T>G	ENSP00000489799.1:n.*1315T>G
ENST00000637238.1:c.1557T>G	ENSP00000490756.1:n.1557T>G
ENST00000637264.1:c.1820T>G
ENST00000666746.1:c.2325T>G
ENST00000670281.1:c.800+963T>G	ENSP00000499709.1:n.800+963T>G
ENST00000672071.1:n.2946T>G
ENST00000672923.2:n.2690T>G
ENST00000268124.9:c.2748T>G	ENSP00000268124.5:p.Phe916Leu
ENST00000442287.6:c.2748T>G	ENSP00000399851.2:p.Phe916Leu
ENST00000528881.2:c.345T>G
ENST00000530715.5:c.186-130T>G	ENSP00000431395.1:n.186-130T>G
ENST00000631044.2:c.*2172T>G	ENSP00000486730.1:n.*2172T>G
NM_001126131.1:c.2748T>G	NP_001119603.1:p.Phe916Leu
NM_002693.2:c.2748T>G	NP_002684.1:p.Phe916Leu
NM_001126131.2:c.2748T>G	NP_001119603.1:p.Phe916Leu
NM_002693.3:c.2748T>G MANE Select	NP_002684.1:p.Phe916Leu