Canonical Allele Identifier: CA492289850

Gene: POLG

Linked Data

• ClinVar Variation Id: 2767013
• ClinVar RCV Id: RCV003515936
• COSMIC: COSM966310
• MyVariant Identifiers: chr15:g.89872060G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328829G>T , CM000677.2:g.89328829G>T	GRCh38
NC_000015.9:g.89872060G>T , CM000677.1:g.89872060G>T	GRCh37
NC_000015.8:g.87673064G>T	NCBI36
NG_008218.1:g.10967C>A
NG_008218.2:g.10967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1026C>A	ENSP00000516154.1:p.Ile342=
ENST00000268124.11:c.1026C>A MANE Select	ENSP00000268124.5:p.Ile342=
ENST00000530292.3:c.627C>A	ENSP00000432885.2:p.Ile209=
ENST00000635986.2:c.1026C>A	ENSP00000490653.2:p.Ile342=
ENST00000636774.1:c.1026C>A	ENSP00000489799.1:p.Ile342=
ENST00000637264.1:c.98C>A
ENST00000666746.1:c.683C>A
ENST00000672071.1:n.1224C>A
ENST00000672923.2:n.23C>A
ENST00000268124.9:c.1026C>A	ENSP00000268124.5:p.Ile342=
ENST00000442287.6:c.1026C>A	ENSP00000399851.2:p.Ile342=
ENST00000631044.2:c.*409C>A	ENSP00000486730.1:n.*409C>A
NM_001126131.1:c.1026C>A	NP_001119603.1:p.Ile342=
NM_002693.2:c.1026C>A	NP_002684.1:p.Ile342=
NM_001126131.2:c.1026C>A	NP_001119603.1:p.Ile342=
NM_002693.3:c.1026C>A MANE Select	NP_002684.1:p.Ile342=