Canonical Allele Identifier: CA393756636

Gene: POLG

Linked Data

• ClinVar Variation Id: 1704780
• ClinVar RCV Id: RCV002283107 ; RCV003101620
• dbSNP Id: rs923667033
• gnomAD v4: 15-89323411-G-C
• MyVariant Identifiers: chr15:g.89866642G>C (hg19) ; chr15:g.89323411G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323411G>C , CM000677.2:g.89323411G>C	GRCh38
NC_000015.9:g.89866642G>C , CM000677.1:g.89866642G>C	GRCh37
NC_000015.8:g.87667646G>C	NCBI36
NG_008218.1:g.16385C>G
NG_008218.2:g.16385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2258C>G	ENSP00000516154.1:p.Pro753Arg
ENST00000268124.11:c.2258C>G MANE Select	ENSP00000268124.5:p.Pro753Arg
ENST00000530292.3:c.1859C>G	ENSP00000432885.2:p.Pro620Arg
ENST00000635986.2:c.2258C>G	ENSP00000490653.2:p.Pro753Arg
ENST00000636774.1:c.*825C>G	ENSP00000489799.1:n.*825C>G
ENST00000637238.1:c.955C>G	ENSP00000490756.1:n.955C>G
ENST00000637264.1:c.1330C>G
ENST00000666746.1:c.1835C>G
ENST00000670281.1:c.578C>G	ENSP00000499709.1:p.Pro193Arg
ENST00000672071.1:n.2456C>G
ENST00000672923.2:n.2361C>G
ENST00000268124.9:c.2258C>G	ENSP00000268124.5:p.Pro753Arg
ENST00000442287.6:c.2258C>G	ENSP00000399851.2:p.Pro753Arg
ENST00000526314.2:c.539+404C>G
ENST00000526398.1:c.407C>G
ENST00000528881.2:c.27C>G
ENST00000530715.5:c.17C>G	ENSP00000431395.1:p.Pro6Arg
ENST00000532584.5:n.460C>G
ENST00000631044.2:c.*1682C>G	ENSP00000486730.1:n.*1682C>G
NM_001126131.1:c.2258C>G	NP_001119603.1:p.Pro753Arg
NM_002693.2:c.2258C>G	NP_002684.1:p.Pro753Arg
NM_001126131.2:c.2258C>G	NP_001119603.1:p.Pro753Arg
NM_002693.3:c.2258C>G MANE Select	NP_002684.1:p.Pro753Arg