Canonical Allele Identifier: CA393770548

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2991008
• ClinVar RCV Id: RCV003849671
• gnomAD v4: 15-89333164-G-T
• MyVariant Identifiers: chr15:g.89876395G>T (hg19) ; chr15:g.89333164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333164G>T , CM000677.2:g.89333164G>T	GRCh38
NC_000015.9:g.89876395G>T , CM000677.1:g.89876395G>T	GRCh37
NC_000015.8:g.87677399G>T	NCBI36
NG_008218.1:g.6632C>A
NG_008218.2:g.6632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.591C>A (POLG)	ENSP00000516154.1:p.Phe197Leu
ENST00000706918.1:c.646C>A (POLGARF)	ENSP00000516626.1:p.Arg216=
ENST00000268124.11:c.591C>A (POLG) MANE Select	ENSP00000268124.5:p.Phe197Leu
ENST00000530292.3:c.192C>A (POLG)	ENSP00000432885.2:p.Phe64Leu
ENST00000635986.2:c.591C>A (POLG)	ENSP00000490653.2:p.Phe197Leu
ENST00000636774.1:c.591C>A (POLG)	ENSP00000489799.1:p.Phe197Leu
ENST00000650303.2:c.646C>A (POLG)	ENSP00000497242.2:p.Arg216=
ENST00000666746.1:c.248C>A (POLG)
ENST00000672071.1:n.789C>A (POLG)
ENST00000268124.9:c.591C>A (POLG)	ENSP00000268124.5:p.Phe197Leu
ENST00000442287.6:c.591C>A (POLG)	ENSP00000399851.2:p.Phe197Leu
ENST00000631044.2:c.591C>A (POLG)	ENSP00000486730.1:p.Phe197Leu
NM_001126131.1:c.591C>A (POLG)	NP_001119603.1:p.Phe197Leu
NM_002693.2:c.591C>A (POLG)	NP_002684.1:p.Phe197Leu
NM_001126131.2:c.591C>A (POLG)	NP_001119603.1:p.Phe197Leu
NM_002693.3:c.591C>A (POLG) MANE Select	NP_002684.1:p.Phe197Leu