Canonical Allele Identifier: CA316685

Gene: POLG

Linked Data

• ClinVar Variation Id: 206520
• ClinVar RCV Id: RCV000188572 ; RCV000758416 ; RCV001263312 ; RCV001270867 ; RCV002514034 ; RCV003985755
• dbSNP Id: rs202037973
• ExAC: 15:89866654 A / G
• gnomAD v2: 15-89866654-A-G
• gnomAD v3: 15-89323423-A-G
• gnomAD v4: 15-89323423-A-G
• MyVariant Identifiers: chr15:g.89866654A>G (hg19) ; chr15:g.89323423A>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323423A>G , CM000677.2:g.89323423A>G	GRCh38
NC_000015.9:g.89866654A>G , CM000677.1:g.89866654A>G	GRCh37
NC_000015.8:g.87667658A>G	NCBI36
NG_008218.1:g.16373T>C
NG_008218.2:g.16373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2246T>C	ENSP00000516154.1:p.Phe749Ser
ENST00000268124.11:c.2246T>C MANE Select	ENSP00000268124.5:p.Phe749Ser
ENST00000530292.3:c.1847T>C	ENSP00000432885.2:p.Phe616Ser
ENST00000635986.2:c.2246T>C	ENSP00000490653.2:p.Phe749Ser
ENST00000636774.1:c.*813T>C	ENSP00000489799.1:n.*813T>C
ENST00000637238.1:c.943T>C	ENSP00000490756.1:n.943T>C
ENST00000637264.1:c.1318T>C
ENST00000666746.1:c.1823T>C
ENST00000670281.1:c.566T>C	ENSP00000499709.1:p.Phe189Ser
ENST00000672071.1:n.2444T>C
ENST00000672923.2:n.2349T>C
ENST00000268124.9:c.2246T>C	ENSP00000268124.5:p.Phe749Ser
ENST00000442287.6:c.2246T>C	ENSP00000399851.2:p.Phe749Ser
ENST00000526314.2:c.539+392T>C
ENST00000526398.1:c.395T>C
ENST00000528881.2:c.15T>C
ENST00000530715.5:c.5T>C	ENSP00000431395.1:p.Phe2Ser
ENST00000532584.5:n.448T>C
ENST00000631044.2:c.*1670T>C	ENSP00000486730.1:n.*1670T>C
NM_001126131.1:c.2246T>C	NP_001119603.1:p.Phe749Ser
NM_002693.2:c.2246T>C	NP_002684.1:p.Phe749Ser
NM_001126131.2:c.2246T>C	NP_001119603.1:p.Phe749Ser
NM_002693.3:c.2246T>C MANE Select	NP_002684.1:p.Phe749Ser