Canonical Allele Identifier: CA393767397

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 648373
• ClinVar RCV Id: RCV000803087
• dbSNP Id: rs1596360430
• MyVariant Identifiers: chr15:g.89873507C>T (hg19) ; chr15:g.89330276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330276C>T , CM000677.2:g.89330276C>T	GRCh38
NC_000015.9:g.89873507C>T , CM000677.1:g.89873507C>T	GRCh37
NC_000015.8:g.87674511C>T	NCBI36
NG_008218.1:g.9520G>A
NG_008218.2:g.9520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.660G>A (POLG)	ENSP00000516154.1:p.Trp220Ter
ENST00000706918.1:c.715G>A (POLGARF)	ENSP00000516626.1:p.Val239Ile
ENST00000268124.11:c.660G>A (POLG) MANE Select	ENSP00000268124.5:p.Trp220Ter
ENST00000530292.3:c.261G>A (POLG)	ENSP00000432885.2:p.Trp87Ter
ENST00000635986.2:c.660G>A (POLG)	ENSP00000490653.2:p.Trp220Ter
ENST00000636774.1:c.660G>A (POLG)	ENSP00000489799.1:p.Trp220Ter
ENST00000637307.1:c.50-15G>A (POLG)
ENST00000650303.2:c.715G>A (POLG)	ENSP00000497242.2:p.Val239Ile
ENST00000666746.1:c.317G>A (POLG)
ENST00000672071.1:n.858G>A (POLG)
ENST00000268124.9:c.660G>A (POLG)	ENSP00000268124.5:p.Trp220Ter
ENST00000442287.6:c.660G>A (POLG)	ENSP00000399851.2:p.Trp220Ter
ENST00000631044.2:c.*43G>A (POLG)	ENSP00000486730.1:n.*43G>A
NM_001126131.1:c.660G>A (POLG)	NP_001119603.1:p.Trp220Ter
NM_002693.2:c.660G>A (POLG)	NP_002684.1:p.Trp220Ter
NM_001126131.2:c.660G>A (POLG)	NP_001119603.1:p.Trp220Ter
NM_002693.3:c.660G>A (POLG) MANE Select	NP_002684.1:p.Trp220Ter