Canonical Allele Identifier: CA393756664

Gene: POLG

Linked Data

• ClinVar Variation Id: 2134648
• ClinVar RCV Id: RCV003045051
• MyVariant Identifiers: chr15:g.89866655A>C (hg19) ; chr15:g.89323424A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323424A>C , CM000677.2:g.89323424A>C	GRCh38
NC_000015.9:g.89866655A>C , CM000677.1:g.89866655A>C	GRCh37
NC_000015.8:g.87667659A>C	NCBI36
NG_008218.1:g.16372T>G
NG_008218.2:g.16372T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2245T>G	ENSP00000516154.1:p.Phe749Val
ENST00000268124.11:c.2245T>G MANE Select	ENSP00000268124.5:p.Phe749Val
ENST00000530292.3:c.1846T>G	ENSP00000432885.2:p.Phe616Val
ENST00000635986.2:c.2245T>G	ENSP00000490653.2:p.Phe749Val
ENST00000636774.1:c.*812T>G	ENSP00000489799.1:n.*812T>G
ENST00000637238.1:c.942T>G	ENSP00000490756.1:n.942T>G
ENST00000637264.1:c.1317T>G
ENST00000666746.1:c.1822T>G
ENST00000670281.1:c.565T>G	ENSP00000499709.1:p.Phe189Val
ENST00000672071.1:n.2443T>G
ENST00000672923.2:n.2348T>G
ENST00000268124.9:c.2245T>G	ENSP00000268124.5:p.Phe749Val
ENST00000442287.6:c.2245T>G	ENSP00000399851.2:p.Phe749Val
ENST00000526314.2:c.539+391T>G
ENST00000526398.1:c.394T>G
ENST00000528881.2:c.14T>G
ENST00000530715.5:c.4T>G	ENSP00000431395.1:p.Phe2Val
ENST00000532584.5:n.447T>G
ENST00000631044.2:c.*1669T>G	ENSP00000486730.1:n.*1669T>G
NM_001126131.1:c.2245T>G	NP_001119603.1:p.Phe749Val
NM_002693.2:c.2245T>G	NP_002684.1:p.Phe749Val
NM_001126131.2:c.2245T>G	NP_001119603.1:p.Phe749Val
NM_002693.3:c.2245T>G MANE Select	NP_002684.1:p.Phe749Val