Canonical Allele Identifier: CA316717

Gene: POLG

Linked Data

• ClinVar Variation Id: 206536
• ClinVar RCV Id: RCV000188590
• dbSNP Id: rs796052891
• MyVariant Identifiers: chr15:g.89864138T>C (hg19) ; chr15:g.89320907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320907T>C , CM000677.2:g.89320907T>C	GRCh38
NC_000015.9:g.89864138T>C , CM000677.1:g.89864138T>C	GRCh37
NC_000015.8:g.87665142T>C	NCBI36
NG_008218.1:g.18889A>G
NG_008218.2:g.18889A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2840A>G	ENSP00000516154.1:p.Lys947Arg
ENST00000268124.11:c.2840A>G MANE Select	ENSP00000268124.5:p.Lys947Arg
ENST00000530292.3:c.2441A>G	ENSP00000432885.2:p.Lys814Arg
ENST00000635986.2:c.2840A>G	ENSP00000490653.2:p.Lys947Arg
ENST00000636774.1:c.*1407A>G	ENSP00000489799.1:n.*1407A>G
ENST00000637238.1:c.1649A>G	ENSP00000490756.1:n.1649A>G
ENST00000637264.1:c.1912A>G
ENST00000666746.1:c.2417A>G
ENST00000670281.1:c.800+1055A>G	ENSP00000499709.1:n.800+1055A>G
ENST00000672071.1:n.3038A>G
ENST00000672695.1:n.17A>G
ENST00000672923.2:n.2782A>G
ENST00000268124.9:c.2840A>G	ENSP00000268124.5:p.Lys947Arg
ENST00000442287.6:c.2840A>G	ENSP00000399851.2:p.Lys947Arg
ENST00000528881.2:c.437A>G
ENST00000530715.5:c.186-38A>G	ENSP00000431395.1:n.186-38A>G
ENST00000631044.2:c.*2264A>G	ENSP00000486730.1:n.*2264A>G
NM_001126131.1:c.2840A>G	NP_001119603.1:p.Lys947Arg
NM_002693.2:c.2840A>G	NP_002684.1:p.Lys947Arg
NM_001126131.2:c.2840A>G	NP_001119603.1:p.Lys947Arg
NM_002693.3:c.2840A>G MANE Select	NP_002684.1:p.Lys947Arg