Canonical Allele Identifier: CA316687

Gene: POLG

Linked Data

• ClinVar Variation Id: 206521
• ClinVar RCV Id: RCV000188573
• dbSNP Id: rs796052886
• gnomAD v2: 15-89866648-T-C
• gnomAD v4: 15-89323417-T-C
• MyVariant Identifiers: chr15:g.89866648T>C (hg19) ; chr15:g.89323417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323417T>C , CM000677.2:g.89323417T>C	GRCh38
NC_000015.9:g.89866648T>C , CM000677.1:g.89866648T>C	GRCh37
NC_000015.8:g.87667652T>C	NCBI36
NG_008218.1:g.16379A>G
NG_008218.2:g.16379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2252A>G	ENSP00000516154.1:p.Lys751Arg
ENST00000268124.11:c.2252A>G MANE Select	ENSP00000268124.5:p.Lys751Arg
ENST00000530292.3:c.1853A>G	ENSP00000432885.2:p.Lys618Arg
ENST00000635986.2:c.2252A>G	ENSP00000490653.2:p.Lys751Arg
ENST00000636774.1:c.*819A>G	ENSP00000489799.1:n.*819A>G
ENST00000637238.1:c.949A>G	ENSP00000490756.1:n.949A>G
ENST00000637264.1:c.1324A>G
ENST00000666746.1:c.1829A>G
ENST00000670281.1:c.572A>G	ENSP00000499709.1:p.Lys191Arg
ENST00000672071.1:n.2450A>G
ENST00000672923.2:n.2355A>G
ENST00000268124.9:c.2252A>G	ENSP00000268124.5:p.Lys751Arg
ENST00000442287.6:c.2252A>G	ENSP00000399851.2:p.Lys751Arg
ENST00000526314.2:c.539+398A>G
ENST00000526398.1:c.401A>G
ENST00000528881.2:c.21A>G
ENST00000530715.5:c.11A>G	ENSP00000431395.1:p.Lys4Arg
ENST00000532584.5:n.454A>G
ENST00000631044.2:c.*1676A>G	ENSP00000486730.1:n.*1676A>G
NM_001126131.1:c.2252A>G	NP_001119603.1:p.Lys751Arg
NM_002693.2:c.2252A>G	NP_002684.1:p.Lys751Arg
NM_001126131.2:c.2252A>G	NP_001119603.1:p.Lys751Arg
NM_002693.3:c.2252A>G MANE Select	NP_002684.1:p.Lys751Arg