Canonical Allele Identifier: CA393756657

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866651A>T (hg19) ; chr15:g.89323420A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323420A>T , CM000677.2:g.89323420A>T	GRCh38
NC_000015.9:g.89866651A>T , CM000677.1:g.89866651A>T	GRCh37
NC_000015.8:g.87667655A>T	NCBI36
NG_008218.1:g.16376T>A
NG_008218.2:g.16376T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2249T>A	ENSP00000516154.1:p.Phe750Tyr
ENST00000268124.11:c.2249T>A MANE Select	ENSP00000268124.5:p.Phe750Tyr
ENST00000530292.3:c.1850T>A	ENSP00000432885.2:p.Phe617Tyr
ENST00000635986.2:c.2249T>A	ENSP00000490653.2:p.Phe750Tyr
ENST00000636774.1:c.*816T>A	ENSP00000489799.1:n.*816T>A
ENST00000637238.1:c.946T>A	ENSP00000490756.1:n.946T>A
ENST00000637264.1:c.1321T>A
ENST00000666746.1:c.1826T>A
ENST00000670281.1:c.569T>A	ENSP00000499709.1:p.Phe190Tyr
ENST00000672071.1:n.2447T>A
ENST00000672923.2:n.2352T>A
ENST00000268124.9:c.2249T>A	ENSP00000268124.5:p.Phe750Tyr
ENST00000442287.6:c.2249T>A	ENSP00000399851.2:p.Phe750Tyr
ENST00000526314.2:c.539+395T>A
ENST00000526398.1:c.398T>A
ENST00000528881.2:c.18T>A
ENST00000530715.5:c.8T>A	ENSP00000431395.1:p.Phe3Tyr
ENST00000532584.5:n.451T>A
ENST00000631044.2:c.*1673T>A	ENSP00000486730.1:n.*1673T>A
NM_001126131.1:c.2249T>A	NP_001119603.1:p.Phe750Tyr
NM_002693.2:c.2249T>A	NP_002684.1:p.Phe750Tyr
NM_001126131.2:c.2249T>A	NP_001119603.1:p.Phe750Tyr
NM_002693.3:c.2249T>A MANE Select	NP_002684.1:p.Phe750Tyr