Canonical Allele Identifier: CA492289839

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89872042C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328811C>A , CM000677.2:g.89328811C>A	GRCh38
NC_000015.9:g.89872042C>A , CM000677.1:g.89872042C>A	GRCh37
NC_000015.8:g.87673046C>A	NCBI36
NG_008218.1:g.10985G>T
NG_008218.2:g.10985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1044G>T	ENSP00000516154.1:p.Leu348=
ENST00000268124.11:c.1044G>T MANE Select	ENSP00000268124.5:p.Leu348=
ENST00000530292.3:c.645G>T	ENSP00000432885.2:p.Leu215=
ENST00000635986.2:c.1044G>T	ENSP00000490653.2:p.Leu348=
ENST00000636774.1:c.1044G>T	ENSP00000489799.1:p.Leu348=
ENST00000637264.1:c.116G>T
ENST00000666746.1:c.701G>T
ENST00000672071.1:n.1242G>T
ENST00000672923.2:n.41G>T
ENST00000268124.9:c.1044G>T	ENSP00000268124.5:p.Leu348=
ENST00000442287.6:c.1044G>T	ENSP00000399851.2:p.Leu348=
ENST00000631044.2:c.*427G>T	ENSP00000486730.1:n.*427G>T
NM_001126131.1:c.1044G>T	NP_001119603.1:p.Leu348=
NM_002693.2:c.1044G>T	NP_002684.1:p.Leu348=
NM_001126131.2:c.1044G>T	NP_001119603.1:p.Leu348=
NM_002693.3:c.1044G>T MANE Select	NP_002684.1:p.Leu348=