Canonical Allele Identifier: CA274549421

Gene: POLG

Linked Data

• ClinVar Variation Id: 2902572
• ClinVar RCV Id: RCV003627317
• dbSNP Id: rs1053847320
• MyVariant Identifiers: chr15:g.89866647C>T (hg19) ; chr15:g.89323416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323416C>T , CM000677.2:g.89323416C>T	GRCh38
NC_000015.9:g.89866647C>T , CM000677.1:g.89866647C>T	GRCh37
NC_000015.8:g.87667651C>T	NCBI36
NG_008218.1:g.16380G>A
NG_008218.2:g.16380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2253G>A	ENSP00000516154.1:p.Lys751=
ENST00000268124.11:c.2253G>A MANE Select	ENSP00000268124.5:p.Lys751=
ENST00000530292.3:c.1854G>A	ENSP00000432885.2:p.Lys618=
ENST00000635986.2:c.2253G>A	ENSP00000490653.2:p.Lys751=
ENST00000636774.1:c.*820G>A	ENSP00000489799.1:n.*820G>A
ENST00000637238.1:c.950G>A	ENSP00000490756.1:n.950G>A
ENST00000637264.1:c.1325G>A
ENST00000666746.1:c.1830G>A
ENST00000670281.1:c.573G>A	ENSP00000499709.1:p.Lys191=
ENST00000672071.1:n.2451G>A
ENST00000672923.2:n.2356G>A
ENST00000268124.9:c.2253G>A	ENSP00000268124.5:p.Lys751=
ENST00000442287.6:c.2253G>A	ENSP00000399851.2:p.Lys751=
ENST00000526314.2:c.539+399G>A
ENST00000526398.1:c.402G>A
ENST00000528881.2:c.22G>A
ENST00000530715.5:c.12G>A	ENSP00000431395.1:p.Lys4=
ENST00000532584.5:n.455G>A
ENST00000631044.2:c.*1677G>A	ENSP00000486730.1:n.*1677G>A
NM_001126131.1:c.2253G>A	NP_001119603.1:p.Lys751=
NM_002693.2:c.2253G>A	NP_002684.1:p.Lys751=
NM_001126131.2:c.2253G>A	NP_001119603.1:p.Lys751=
NM_002693.3:c.2253G>A MANE Select	NP_002684.1:p.Lys751=