Canonical Allele Identifier: CA316875

Gene: POLG

Linked Data

• ClinVar Variation Id: 206618
• ClinVar RCV Id: RCV000758327
• dbSNP Id: rs796052913
• gnomAD v2: 15-89860741-A-C
• gnomAD v4: 15-89317510-A-C
• MyVariant Identifiers: chr15:g.89860741A>C (hg19) ; chr15:g.89317510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317510A>C , CM000677.2:g.89317510A>C	GRCh38
NC_000015.9:g.89860741A>C , CM000677.1:g.89860741A>C	GRCh37
NC_000015.8:g.87661745A>C	NCBI36
NG_008218.1:g.22286T>G
NG_011736.1:g.78548A>C , LRG_500:g.78548A>C
NG_008218.2:g.22286T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3509T>G	ENSP00000516154.1:p.Leu1170Arg
ENST00000268124.11:c.3509T>G MANE Select	ENSP00000268124.5:p.Leu1170Arg
ENST00000530292.3:c.3209T>G	ENSP00000432885.2:n.3209T>G
ENST00000635986.2:c.*579T>G	ENSP00000490653.2:n.*579T>G
ENST00000636774.1:c.*2113T>G	ENSP00000489799.1:n.*2113T>G
ENST00000637042.1:n.72-39T>G
ENST00000637238.1:c.2417T>G	ENSP00000490756.1:n.2417T>G
ENST00000637264.1:c.2555-34T>G
ENST00000666746.1:c.3086T>G
ENST00000672071.1:n.4711T>G
ENST00000672695.1:n.1288T>G
ENST00000672923.2:n.3509T>G
ENST00000268124.9:c.3509T>G	ENSP00000268124.5:p.Leu1170Arg
ENST00000442287.6:c.3509T>G	ENSP00000399851.2:p.Leu1170Arg
ENST00000526671.1:n.319T>G
ENST00000530292.2:c.692T>G	ENSP00000432885.1:n.692T>G
ENST00000631044.2:c.*2933T>G	ENSP00000486730.1:n.*2933T>G
NM_001126131.1:c.3509T>G	NP_001119603.1:p.Leu1170Arg
NM_002693.2:c.3509T>G	NP_002684.1:p.Leu1170Arg
NM_001126131.2:c.3509T>G	NP_001119603.1:p.Leu1170Arg
NM_002693.3:c.3509T>G MANE Select	NP_002684.1:p.Leu1170Arg