Canonical Allele Identifier: CA492289184

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868701A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325470A>C , CM000677.2:g.89325470A>C	GRCh38
NC_000015.9:g.89868701A>C , CM000677.1:g.89868701A>C	GRCh37
NC_000015.8:g.87669705A>C	NCBI36
NG_008218.1:g.14326T>G
NG_008218.2:g.14326T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1929T>G	ENSP00000516154.1:p.Ala643=
ENST00000268124.11:c.1929T>G MANE Select	ENSP00000268124.5:p.Ala643=
ENST00000530292.3:c.1530T>G	ENSP00000432885.2:p.Ala510=
ENST00000635986.2:c.1929T>G	ENSP00000490653.2:p.Ala643=
ENST00000636774.1:c.*496T>G	ENSP00000489799.1:n.*496T>G
ENST00000637238.1:c.646+20T>G	ENSP00000490756.1:n.646+20T>G
ENST00000637264.1:c.1001T>G
ENST00000666746.1:c.1506T>G
ENST00000670281.1:c.249T>G	ENSP00000499709.1:p.Ala83=
ENST00000672071.1:n.2127T>G
ENST00000672923.2:n.2032T>G
ENST00000268124.9:c.1929T>G	ENSP00000268124.5:p.Ala643=
ENST00000442287.6:c.1929T>G	ENSP00000399851.2:p.Ala643=
ENST00000526314.2:c.311T>G
ENST00000526398.1:c.118T>G
ENST00000526573.1:n.15T>G
ENST00000532584.5:n.131T>G
ENST00000631044.2:c.*1312T>G	ENSP00000486730.1:n.*1312T>G
NM_001126131.1:c.1929T>G	NP_001119603.1:p.Ala643=
NM_002693.2:c.1929T>G	NP_002684.1:p.Ala643=
NM_001126131.2:c.1929T>G	NP_001119603.1:p.Ala643=
NM_002693.3:c.1929T>G MANE Select	NP_002684.1:p.Ala643=