Canonical Allele Identifier: CA393759379

Gene: POLG

Linked Data

• ClinVar Variation Id: 2871823
• ClinVar RCV Id: RCV003626392
• dbSNP Id: rs778172428
• MyVariant Identifiers: chr15:g.89868850G>C (hg19) ; chr15:g.89325619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325619G>C , CM000677.2:g.89325619G>C	GRCh38
NC_000015.9:g.89868850G>C , CM000677.1:g.89868850G>C	GRCh37
NC_000015.8:g.87669854G>C	NCBI36
NG_008218.1:g.14177C>G
NG_008218.2:g.14177C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1780C>G	ENSP00000516154.1:p.Leu594Val
ENST00000268124.11:c.1780C>G MANE Select	ENSP00000268124.5:p.Leu594Val
ENST00000530292.3:c.1381C>G	ENSP00000432885.2:p.Leu461Val
ENST00000635986.2:c.1780C>G	ENSP00000490653.2:p.Leu594Val
ENST00000636774.1:c.*347C>G	ENSP00000489799.1:n.*347C>G
ENST00000637238.1:c.517C>G	ENSP00000490756.1:p.Leu173Val
ENST00000637264.1:c.852C>G
ENST00000666746.1:c.1357C>G
ENST00000670281.1:c.100C>G	ENSP00000499709.1:p.Leu34Val
ENST00000672071.1:n.1978C>G
ENST00000672923.2:n.1883C>G
ENST00000268124.9:c.1780C>G	ENSP00000268124.5:p.Leu594Val
ENST00000442287.6:c.1780C>G	ENSP00000399851.2:p.Leu594Val
ENST00000526314.2:c.162C>G
ENST00000631044.2:c.*1163C>G	ENSP00000486730.1:n.*1163C>G
NM_001126131.1:c.1780C>G	NP_001119603.1:p.Leu594Val
NM_002693.2:c.1780C>G	NP_002684.1:p.Leu594Val
NM_001126131.2:c.1780C>G	NP_001119603.1:p.Leu594Val
NM_002693.3:c.1780C>G MANE Select	NP_002684.1:p.Leu594Val