Canonical Allele Identifier: CA393756628

Gene: POLG

Linked Data

• ClinVar Variation Id: 2577374
• ClinVar RCV Id: RCV003324451
• dbSNP Id: rs1213000733
• gnomAD v4: 15-89323406-T-G
• MyVariant Identifiers: chr15:g.89866637T>G (hg19) ; chr15:g.89323406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323406T>G , CM000677.2:g.89323406T>G	GRCh38
NC_000015.9:g.89866637T>G , CM000677.1:g.89866637T>G	GRCh37
NC_000015.8:g.87667641T>G	NCBI36
NG_008218.1:g.16390A>C
NG_008218.2:g.16390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2263A>C	ENSP00000516154.1:p.Lys755Gln
ENST00000268124.11:c.2263A>C MANE Select	ENSP00000268124.5:p.Lys755Gln
ENST00000530292.3:c.1864A>C	ENSP00000432885.2:p.Lys622Gln
ENST00000635986.2:c.2263A>C	ENSP00000490653.2:p.Lys755Gln
ENST00000636774.1:c.*830A>C	ENSP00000489799.1:n.*830A>C
ENST00000637238.1:c.960A>C	ENSP00000490756.1:n.960A>C
ENST00000637264.1:c.1335A>C
ENST00000666746.1:c.1840A>C
ENST00000670281.1:c.583A>C	ENSP00000499709.1:p.Lys195Gln
ENST00000672071.1:n.2461A>C
ENST00000672923.2:n.2366A>C
ENST00000268124.9:c.2263A>C	ENSP00000268124.5:p.Lys755Gln
ENST00000442287.6:c.2263A>C	ENSP00000399851.2:p.Lys755Gln
ENST00000526314.2:c.539+409A>C
ENST00000526398.1:c.412A>C
ENST00000528881.2:c.32A>C
ENST00000530715.5:c.22A>C	ENSP00000431395.1:p.Lys8Gln
ENST00000532584.5:n.465A>C
ENST00000631044.2:c.*1687A>C	ENSP00000486730.1:n.*1687A>C
NM_001126131.1:c.2263A>C	NP_001119603.1:p.Lys755Gln
NM_002693.2:c.2263A>C	NP_002684.1:p.Lys755Gln
NM_001126131.2:c.2263A>C	NP_001119603.1:p.Lys755Gln
NM_002693.3:c.2263A>C MANE Select	NP_002684.1:p.Lys755Gln