Canonical Allele Identifier: CA316873

Gene: POLG

Linked Data

• ClinVar Variation Id: 206617
• ClinVar RCV Id: RCV000188683 ; RCV001857640
• dbSNP Id: rs754900596
• ExAC: 15:89860753 T / C
• gnomAD v3: 15-89317522-T-C
• gnomAD v4: 15-89317522-T-C
• MyVariant Identifiers: chr15:g.89860753T>C (hg19) ; chr15:g.89317522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317522T>C , CM000677.2:g.89317522T>C	GRCh38
NC_000015.9:g.89860753T>C , CM000677.1:g.89860753T>C	GRCh37
NC_000015.8:g.87661757T>C	NCBI36
NG_008218.1:g.22274A>G
NG_011736.1:g.78560T>C , LRG_500:g.78560T>C
NG_008218.2:g.22274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3497A>G	ENSP00000516154.1:p.Tyr1166Cys
ENST00000268124.11:c.3497A>G MANE Select	ENSP00000268124.5:p.Tyr1166Cys
ENST00000530292.3:c.3197A>G	ENSP00000432885.2:n.3197A>G
ENST00000635986.2:c.*567A>G	ENSP00000490653.2:n.*567A>G
ENST00000636774.1:c.*2101A>G	ENSP00000489799.1:n.*2101A>G
ENST00000637042.1:n.72-51A>G
ENST00000637238.1:c.2405A>G	ENSP00000490756.1:n.2405A>G
ENST00000637264.1:c.2555-46A>G
ENST00000666746.1:c.3074A>G
ENST00000672071.1:n.4699A>G
ENST00000672695.1:n.1276A>G
ENST00000672923.2:n.3497A>G
ENST00000268124.9:c.3497A>G	ENSP00000268124.5:p.Tyr1166Cys
ENST00000442287.6:c.3497A>G	ENSP00000399851.2:p.Tyr1166Cys
ENST00000526671.1:n.307A>G
ENST00000530292.2:c.680A>G	ENSP00000432885.1:n.680A>G
ENST00000631044.2:c.*2921A>G	ENSP00000486730.1:n.*2921A>G
NM_001126131.1:c.3497A>G	NP_001119603.1:p.Tyr1166Cys
NM_002693.2:c.3497A>G	NP_002684.1:p.Tyr1166Cys
NM_001126131.2:c.3497A>G	NP_001119603.1:p.Tyr1166Cys
NM_002693.3:c.3497A>G MANE Select	NP_002684.1:p.Tyr1166Cys