Canonical Allele Identifier: CA492076418

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866674C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323443C>G , CM000677.2:g.89323443C>G	GRCh38
NC_000015.9:g.89866674C>G , CM000677.1:g.89866674C>G	GRCh37
NC_000015.8:g.87667678C>G	NCBI36
NG_008218.1:g.16353G>C
NG_008218.2:g.16353G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2226G>C	ENSP00000516154.1:p.Val742=
ENST00000268124.11:c.2226G>C MANE Select	ENSP00000268124.5:p.Val742=
ENST00000530292.3:c.1827G>C	ENSP00000432885.2:p.Val609=
ENST00000635986.2:c.2226G>C	ENSP00000490653.2:p.Val742=
ENST00000636774.1:c.*793G>C	ENSP00000489799.1:n.*793G>C
ENST00000637238.1:c.923G>C	ENSP00000490756.1:n.923G>C
ENST00000637264.1:c.1298G>C
ENST00000666746.1:c.1803G>C
ENST00000670281.1:c.546G>C	ENSP00000499709.1:p.Val182=
ENST00000672071.1:n.2424G>C
ENST00000672923.2:n.2329G>C
ENST00000268124.9:c.2226G>C	ENSP00000268124.5:p.Val742=
ENST00000442287.6:c.2226G>C	ENSP00000399851.2:p.Val742=
ENST00000526314.2:c.539+372G>C
ENST00000526398.1:c.375G>C
ENST00000532584.5:n.428G>C
ENST00000631044.2:c.*1650G>C	ENSP00000486730.1:n.*1650G>C
NM_001126131.1:c.2226G>C	NP_001119603.1:p.Val742=
NM_002693.2:c.2226G>C	NP_002684.1:p.Val742=
NM_001126131.2:c.2226G>C	NP_001119603.1:p.Val742=
NM_002693.3:c.2226G>C MANE Select	NP_002684.1:p.Val742=