Canonical Allele Identifier: CA492289177

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868692G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325461G>C , CM000677.2:g.89325461G>C	GRCh38
NC_000015.9:g.89868692G>C , CM000677.1:g.89868692G>C	GRCh37
NC_000015.8:g.87669696G>C	NCBI36
NG_008218.1:g.14335C>G
NG_008218.2:g.14335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1938C>G	ENSP00000516154.1:p.Val646=
ENST00000268124.11:c.1938C>G MANE Select	ENSP00000268124.5:p.Val646=
ENST00000530292.3:c.1539C>G	ENSP00000432885.2:p.Val513=
ENST00000635986.2:c.1938C>G	ENSP00000490653.2:p.Val646=
ENST00000636774.1:c.*505C>G	ENSP00000489799.1:n.*505C>G
ENST00000637238.1:c.646+29C>G	ENSP00000490756.1:n.646+29C>G
ENST00000637264.1:c.1010C>G
ENST00000666746.1:c.1515C>G
ENST00000670281.1:c.258C>G	ENSP00000499709.1:p.Val86=
ENST00000672071.1:n.2136C>G
ENST00000672923.2:n.2041C>G
ENST00000268124.9:c.1938C>G	ENSP00000268124.5:p.Val646=
ENST00000442287.6:c.1938C>G	ENSP00000399851.2:p.Val646=
ENST00000526314.2:c.320C>G
ENST00000526398.1:c.127C>G
ENST00000526573.1:n.24C>G
ENST00000532584.5:n.140C>G
ENST00000631044.2:c.*1321C>G	ENSP00000486730.1:n.*1321C>G
NM_001126131.1:c.1938C>G	NP_001119603.1:p.Val646=
NM_002693.2:c.1938C>G	NP_002684.1:p.Val646=
NM_001126131.2:c.1938C>G	NP_001119603.1:p.Val646=
NM_002693.3:c.1938C>G MANE Select	NP_002684.1:p.Val646=