Canonical Allele Identifier: CA492289410

Gene: POLG

Linked Data

• dbSNP Id: rs2055505376
• MyVariant Identifiers: chr15:g.89868824G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325593G>C , CM000677.2:g.89325593G>C	GRCh38
NC_000015.9:g.89868824G>C , CM000677.1:g.89868824G>C	GRCh37
NC_000015.8:g.87669828G>C	NCBI36
NG_008218.1:g.14203C>G
NG_008218.2:g.14203C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1806C>G	ENSP00000516154.1:p.Leu602=
ENST00000268124.11:c.1806C>G MANE Select	ENSP00000268124.5:p.Leu602=
ENST00000530292.3:c.1407C>G	ENSP00000432885.2:p.Leu469=
ENST00000635986.2:c.1806C>G	ENSP00000490653.2:p.Leu602=
ENST00000636774.1:c.*373C>G	ENSP00000489799.1:n.*373C>G
ENST00000637238.1:c.543C>G	ENSP00000490756.1:p.Leu181=
ENST00000637264.1:c.878C>G
ENST00000666746.1:c.1383C>G
ENST00000670281.1:c.126C>G	ENSP00000499709.1:p.Leu42=
ENST00000672071.1:n.2004C>G
ENST00000672923.2:n.1909C>G
ENST00000268124.9:c.1806C>G	ENSP00000268124.5:p.Leu602=
ENST00000442287.6:c.1806C>G	ENSP00000399851.2:p.Leu602=
ENST00000526314.2:c.188C>G
ENST00000532584.5:n.8C>G
ENST00000631044.2:c.*1189C>G	ENSP00000486730.1:n.*1189C>G
NM_001126131.1:c.1806C>G	NP_001119603.1:p.Leu602=
NM_002693.2:c.1806C>G	NP_002684.1:p.Leu602=
NM_001126131.2:c.1806C>G	NP_001119603.1:p.Leu602=
NM_002693.3:c.1806C>G MANE Select	NP_002684.1:p.Leu602=