Canonical Allele Identifier: CA393771248

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1520784
• ClinVar RCV Id: RCV002027712
• dbSNP Id: rs1424057005
• gnomAD v4: 15-89333255-G-A
• MyVariant Identifiers: chr15:g.89876486G>A (hg19) ; chr15:g.89333255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333255G>A , CM000677.2:g.89333255G>A	GRCh38
NC_000015.9:g.89876486G>A , CM000677.1:g.89876486G>A	GRCh37
NC_000015.8:g.87677490G>A	NCBI36
NG_008218.1:g.6541C>T
NG_008218.2:g.6541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.500C>T (POLG)	ENSP00000516154.1:p.Pro167Leu
ENST00000706918.1:c.555C>T (POLGARF)	ENSP00000516626.1:p.Pro185=
ENST00000268124.11:c.500C>T (POLG) MANE Select	ENSP00000268124.5:p.Pro167Leu
ENST00000530292.3:c.101C>T (POLG)	ENSP00000432885.2:p.Pro34Leu
ENST00000635986.2:c.500C>T (POLG)	ENSP00000490653.2:p.Pro167Leu
ENST00000636774.1:c.500C>T (POLG)	ENSP00000489799.1:p.Pro167Leu
ENST00000650303.2:c.555C>T (POLG)	ENSP00000497242.2:p.Pro185=
ENST00000666746.1:c.157C>T (POLG)
ENST00000672071.1:n.698C>T (POLG)
ENST00000268124.9:c.500C>T (POLG)	ENSP00000268124.5:p.Pro167Leu
ENST00000442287.6:c.500C>T (POLG)	ENSP00000399851.2:p.Pro167Leu
ENST00000631044.2:c.500C>T (POLG)	ENSP00000486730.1:p.Pro167Leu
NM_001126131.1:c.500C>T (POLG)	NP_001119603.1:p.Pro167Leu
NM_002693.2:c.500C>T (POLG)	NP_002684.1:p.Pro167Leu
NM_001126131.2:c.500C>T (POLG)	NP_001119603.1:p.Pro167Leu
NM_002693.3:c.500C>T (POLG) MANE Select	NP_002684.1:p.Pro167Leu