Canonical Allele Identifier: CA7725109

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 3000828
• ClinVar RCV Id: RCV003859987
• dbSNP Id: rs745813477
• ExAC: 15:89876515 C / A
• gnomAD v2: 15-89876515-C-A
• gnomAD v4: 15-89333284-C-A
• MyVariant Identifiers: chr15:g.89876515C>A (hg19) ; chr15:g.89333284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333284C>A , CM000677.2:g.89333284C>A	GRCh38
NC_000015.9:g.89876515C>A , CM000677.1:g.89876515C>A	GRCh37
NC_000015.8:g.87677519C>A	NCBI36
NG_008218.1:g.6512G>T
NG_008218.2:g.6512G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.471G>T (POLG)	ENSP00000516154.1:p.Leu157=
ENST00000706918.1:c.526G>T (POLGARF)	ENSP00000516626.1:p.Val176Phe
ENST00000268124.11:c.471G>T (POLG) MANE Select	ENSP00000268124.5:p.Leu157=
ENST00000530292.3:c.72G>T (POLG)	ENSP00000432885.2:p.Leu24=
ENST00000635986.2:c.471G>T (POLG)	ENSP00000490653.2:p.Leu157=
ENST00000636774.1:c.471G>T (POLG)	ENSP00000489799.1:p.Leu157=
ENST00000650303.2:c.526G>T (POLG)	ENSP00000497242.2:p.Val176Phe
ENST00000666746.1:c.128G>T (POLG)
ENST00000672071.1:n.669G>T (POLG)
ENST00000268124.9:c.471G>T (POLG)	ENSP00000268124.5:p.Leu157=
ENST00000442287.6:c.471G>T (POLG)	ENSP00000399851.2:p.Leu157=
ENST00000631044.2:c.471G>T (POLG)	ENSP00000486730.1:p.Leu157=
NM_001126131.1:c.471G>T (POLG)	NP_001119603.1:p.Leu157=
NM_002693.2:c.471G>T (POLG)	NP_002684.1:p.Leu157=
NM_001126131.2:c.471G>T (POLG)	NP_001119603.1:p.Leu157=
NM_002693.3:c.471G>T (POLG) MANE Select	NP_002684.1:p.Leu157=