Canonical Allele Identifier: CA316867

Gene: POLG

Linked Data

• ClinVar Variation Id: 206614
• ClinVar RCV Id: RCV000188680
• dbSNP Id: rs796052912
• gnomAD v4: 15-89318698-A-C
• MyVariant Identifiers: chr15:g.89861929A>C (hg19) ; chr15:g.89318698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318698A>C , CM000677.2:g.89318698A>C	GRCh38
NC_000015.9:g.89861929A>C , CM000677.1:g.89861929A>C	GRCh37
NC_000015.8:g.87662933A>C	NCBI36
NG_008218.1:g.21098T>G
NG_011736.1:g.79736A>C , LRG_500:g.79736A>C
NG_008218.2:g.21098T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3325T>G	ENSP00000516154.1:p.Leu1109Val
ENST00000268124.11:c.3325T>G MANE Select	ENSP00000268124.5:p.Leu1109Val
ENST00000530292.3:c.2926T>G	ENSP00000432885.2:p.Leu976Val
ENST00000635986.2:c.*395T>G	ENSP00000490653.2:n.*395T>G
ENST00000636774.1:c.*1892T>G	ENSP00000489799.1:n.*1892T>G
ENST00000637238.1:c.2134T>G	ENSP00000490756.1:n.2134T>G
ENST00000637264.1:c.2397T>G
ENST00000666746.1:c.2902T>G
ENST00000672071.1:n.3523T>G
ENST00000672695.1:n.502T>G
ENST00000672923.2:n.3325T>G
ENST00000268124.9:c.3325T>G	ENSP00000268124.5:p.Leu1109Val
ENST00000442287.6:c.3325T>G	ENSP00000399851.2:p.Leu1109Val
ENST00000530292.2:c.409T>G	ENSP00000432885.1:p.Leu137Val
ENST00000631044.2:c.*2749T>G	ENSP00000486730.1:n.*2749T>G
NM_001126131.1:c.3325T>G	NP_001119603.1:p.Leu1109Val
NM_002693.2:c.3325T>G	NP_002684.1:p.Leu1109Val
NM_001126131.2:c.3325T>G	NP_001119603.1:p.Leu1109Val
NM_002693.3:c.3325T>G MANE Select	NP_002684.1:p.Leu1109Val