Canonical Allele Identifier: CA393759465

Gene: POLG

Linked Data

• ClinVar Variation Id: 1391590
• ClinVar RCV Id: RCV001893159
• dbSNP Id: rs2152065984
• MyVariant Identifiers: chr15:g.89868892G>C (hg19) ; chr15:g.89325661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325661G>C , CM000677.2:g.89325661G>C	GRCh38
NC_000015.9:g.89868892G>C , CM000677.1:g.89868892G>C	GRCh37
NC_000015.8:g.87669896G>C	NCBI36
NG_008218.1:g.14135C>G
NG_008218.2:g.14135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1738C>G	ENSP00000516154.1:p.Leu580Val
ENST00000268124.11:c.1738C>G MANE Select	ENSP00000268124.5:p.Leu580Val
ENST00000530292.3:c.1339C>G	ENSP00000432885.2:p.Leu447Val
ENST00000635986.2:c.1738C>G	ENSP00000490653.2:p.Leu580Val
ENST00000636774.1:c.*305C>G	ENSP00000489799.1:n.*305C>G
ENST00000637238.1:c.475C>G	ENSP00000490756.1:p.Leu159Val
ENST00000637264.1:c.810C>G
ENST00000666746.1:c.1315C>G
ENST00000670281.1:c.58C>G	ENSP00000499709.1:p.Leu20Val
ENST00000672071.1:n.1936C>G
ENST00000672923.2:n.1841C>G
ENST00000268124.9:c.1738C>G	ENSP00000268124.5:p.Leu580Val
ENST00000442287.6:c.1738C>G	ENSP00000399851.2:p.Leu580Val
ENST00000526314.2:c.120C>G
ENST00000631044.2:c.*1121C>G	ENSP00000486730.1:n.*1121C>G
NM_001126131.1:c.1738C>G	NP_001119603.1:p.Leu580Val
NM_002693.2:c.1738C>G	NP_002684.1:p.Leu580Val
NM_001126131.2:c.1738C>G	NP_001119603.1:p.Leu580Val
NM_002693.3:c.1738C>G MANE Select	NP_002684.1:p.Leu580Val