Canonical Allele Identifier: CA393767197

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1351598
• ClinVar RCV Id: RCV002044847
• dbSNP Id: rs113994093
• MyVariant Identifiers: chr15:g.89873472C>G (hg19) ; chr15:g.89330241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330241C>G , CM000677.2:g.89330241C>G	GRCh38
NC_000015.9:g.89873472C>G , CM000677.1:g.89873472C>G	GRCh37
NC_000015.8:g.87674476C>G	NCBI36
NG_008218.1:g.9555G>C
NG_008218.2:g.9555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.695G>C (POLG)	ENSP00000516154.1:p.Arg232Pro
ENST00000706918.1:c.750G>C (POLGARF)	ENSP00000516626.1:p.Ala250=
ENST00000268124.11:c.695G>C (POLG) MANE Select	ENSP00000268124.5:p.Arg232Pro
ENST00000530292.3:c.296G>C (POLG)	ENSP00000432885.2:p.Arg99Pro
ENST00000635986.2:c.695G>C (POLG)	ENSP00000490653.2:p.Arg232Pro
ENST00000636774.1:c.695G>C (POLG)	ENSP00000489799.1:p.Arg232Pro
ENST00000637307.1:c.70G>C (POLG)
ENST00000650303.2:c.750G>C (POLG)	ENSP00000497242.2:p.Ala250=
ENST00000666746.1:c.352G>C (POLG)
ENST00000672071.1:n.893G>C (POLG)
ENST00000268124.9:c.695G>C (POLG)	ENSP00000268124.5:p.Arg232Pro
ENST00000442287.6:c.695G>C (POLG)	ENSP00000399851.2:p.Arg232Pro
ENST00000631044.2:c.*78G>C (POLG)	ENSP00000486730.1:n.*78G>C
NM_001126131.1:c.695G>C (POLG)	NP_001119603.1:p.Arg232Pro
NM_002693.2:c.695G>C (POLG)	NP_002684.1:p.Arg232Pro
NM_001126131.2:c.695G>C (POLG)	NP_001119603.1:p.Arg232Pro
NM_002693.3:c.695G>C (POLG) MANE Select	NP_002684.1:p.Arg232Pro