Canonical Allele Identifier: CA316680

Gene: POLG

Linked Data

• ClinVar Variation Id: 206517
• ClinVar RCV Id: RCV000778453
• dbSNP Id: rs796052884
• MyVariant Identifiers: chr15:g.89866634C>G (hg19) ; chr15:g.89323403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323403C>G , CM000677.2:g.89323403C>G	GRCh38
NC_000015.9:g.89866634C>G , CM000677.1:g.89866634C>G	GRCh37
NC_000015.8:g.87667638C>G	NCBI36
NG_008218.1:g.16393G>C
NG_008218.2:g.16393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2265+1G>C	ENSP00000516154.1:n.2265+1G>C
ENST00000268124.11:c.2265+1G>C MANE Select	ENSP00000268124.5:n.2265+1G>C
ENST00000530292.3:c.1866+1G>C	ENSP00000432885.2:n.1866+1G>C
ENST00000635986.2:c.2265+1G>C	ENSP00000490653.2:n.2265+1G>C
ENST00000636774.1:c.*832+1G>C	ENSP00000489799.1:n.*832+1G>C
ENST00000637238.1:c.962+1G>C	ENSP00000490756.1:n.962+1G>C
ENST00000637264.1:c.1337+1G>C
ENST00000666746.1:c.1842+1G>C
ENST00000670281.1:c.585+1G>C	ENSP00000499709.1:n.585+1G>C
ENST00000672071.1:n.2463+1G>C
ENST00000672923.2:n.2368+1G>C
ENST00000268124.9:c.2265+1G>C	ENSP00000268124.5:n.2265+1G>C
ENST00000442287.6:c.2265+1G>C	ENSP00000399851.2:n.2265+1G>C
ENST00000526314.2:c.539+412G>C
ENST00000526398.1:c.414+1G>C
ENST00000528881.2:c.34+1G>C
ENST00000530715.5:c.24+1G>C	ENSP00000431395.1:n.24+1G>C
ENST00000532584.5:n.467+1G>C
ENST00000631044.2:c.*1689+1G>C	ENSP00000486730.1:n.*1689+1G>C
NM_001126131.1:c.2265+1G>C	NP_001119603.1:n.2265+1G>C
NM_002693.2:c.2265+1G>C	NP_002684.1:n.2265+1G>C
NM_001126131.2:c.2265+1G>C	NP_001119603.1:n.2265+1G>C
NM_002693.3:c.2265+1G>C MANE Select	NP_002684.1:n.2265+1G>C