Canonical Allele Identifier: CA492290043

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 515909
• ClinVar RCV Id: RCV001698052 ; RCV002528703 ; RCV003985804
• dbSNP Id: rs1241802528
• gnomAD v2: 15-89876766-A-G
• gnomAD v3: 15-89333535-A-G
• gnomAD v4: 15-89333535-A-G
• MyVariant Identifiers: chr15:g.89876766A>G (hg19) ; chr15:g.89333535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333535A>G , CM000677.2:g.89333535A>G	GRCh38
NC_000015.9:g.89876766A>G , CM000677.1:g.89876766A>G	GRCh37
NC_000015.8:g.87677770A>G	NCBI36
NG_008218.1:g.6261T>C
NG_008218.2:g.6261T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.220T>C (POLG)	ENSP00000516154.1:p.Leu74=
ENST00000706918.1:c.275T>C (POLGARF)	ENSP00000516626.1:p.Ile92Thr
ENST00000268124.11:c.220T>C (POLG) MANE Select	ENSP00000268124.5:p.Leu74=
ENST00000635986.2:c.220T>C (POLG)	ENSP00000490653.2:p.Leu74=
ENST00000636774.1:c.220T>C (POLG)	ENSP00000489799.1:p.Leu74=
ENST00000650303.2:c.275T>C (POLG)	ENSP00000497242.2:p.Ile92Thr
ENST00000672071.1:n.418T>C (POLG)
ENST00000268124.9:c.220T>C (POLG)	ENSP00000268124.5:p.Leu74=
ENST00000442287.6:c.220T>C (POLG)	ENSP00000399851.2:p.Leu74=
ENST00000631044.2:c.220T>C (POLG)	ENSP00000486730.1:p.Leu74=
NM_001126131.1:c.220T>C (POLG)	NP_001119603.1:p.Leu74=
NM_002693.2:c.220T>C (POLG)	NP_002684.1:p.Leu74=
NM_001126131.2:c.220T>C (POLG)	NP_001119603.1:p.Leu74=
NM_002693.3:c.220T>C (POLG) MANE Select	NP_002684.1:p.Leu74=