Canonical Allele Identifier: CA316748

Gene: POLG

Linked Data

• ClinVar Variation Id: 206552
• ClinVar RCV Id: RCV000188609 ; RCV000633539 ; RCV002478660 ; RCV002517884
• dbSNP Id: rs530757118
• ExAC: 15:89862220 G / C
• gnomAD v2: 15-89862220-G-C
• gnomAD v3: 15-89318989-G-C
• gnomAD v4: 15-89318989-G-C
• COSMIC: COSM5703228
• MyVariant Identifiers: chr15:g.89862220G>C (hg19) ; chr15:g.89318989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318989G>C , CM000677.2:g.89318989G>C	GRCh38
NC_000015.9:g.89862220G>C , CM000677.1:g.89862220G>C	GRCh37
NC_000015.8:g.87663224G>C	NCBI36
NG_008218.1:g.20807C>G
NG_011736.1:g.80027G>C , LRG_500:g.80027G>C
NG_008218.2:g.20807C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3215C>G	ENSP00000516154.1:p.Thr1072Ser
ENST00000268124.11:c.3215C>G MANE Select	ENSP00000268124.5:p.Thr1072Ser
ENST00000530292.3:c.2816C>G	ENSP00000432885.2:p.Thr939Ser
ENST00000635986.2:c.*285C>G	ENSP00000490653.2:n.*285C>G
ENST00000636774.1:c.*1782C>G	ENSP00000489799.1:n.*1782C>G
ENST00000637238.1:c.2024C>G	ENSP00000490756.1:n.2024C>G
ENST00000637264.1:c.2287C>G
ENST00000666746.1:c.2792C>G
ENST00000672071.1:n.3413C>G
ENST00000672695.1:n.392C>G
ENST00000672923.2:n.3215C>G
ENST00000268124.9:c.3215C>G	ENSP00000268124.5:p.Thr1072Ser
ENST00000442287.6:c.3215C>G	ENSP00000399851.2:p.Thr1072Ser
ENST00000530292.2:c.299C>G	ENSP00000432885.1:p.Thr100Ser
ENST00000631044.2:c.*2639C>G	ENSP00000486730.1:n.*2639C>G
NM_001126131.1:c.3215C>G	NP_001119603.1:p.Thr1072Ser
NM_002693.2:c.3215C>G	NP_002684.1:p.Thr1072Ser
NM_001126131.2:c.3215C>G	NP_001119603.1:p.Thr1072Ser
NM_002693.3:c.3215C>G MANE Select	NP_002684.1:p.Thr1072Ser