Canonical Allele Identifier: CA2580090183

Gene: POLG

Linked Data

• ClinVar Variation Id: 1709564
• ClinVar RCV Id: RCV002289379

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317542A>G , CM000677.2:g.89317542A>G	GRCh38
NC_000015.9:g.89860773A>G , CM000677.1:g.89860773A>G	GRCh37
NC_000015.8:g.87661777A>G	NCBI36
NG_008218.1:g.22254T>C
NG_011736.1:g.78580A>G , LRG_500:g.78580A>G
NG_008218.2:g.22254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-6T>C	ENSP00000516154.1:n.3483-6T>C
ENST00000268124.11:c.3483-6T>C MANE Select	ENSP00000268124.5:n.3483-6T>C
ENST00000530292.3:c.3183-6T>C	ENSP00000432885.2:n.3183-6T>C
ENST00000635986.2:c.*553-6T>C	ENSP00000490653.2:n.*553-6T>C
ENST00000636774.1:c.*2087-6T>C	ENSP00000489799.1:n.*2087-6T>C
ENST00000637042.1:n.72-71T>C
ENST00000637238.1:c.2391-6T>C	ENSP00000490756.1:n.2391-6T>C
ENST00000637264.1:c.2555-66T>C
ENST00000666746.1:c.3060-6T>C
ENST00000672071.1:n.4679T>C
ENST00000672695.1:n.1262-6T>C
ENST00000672923.2:n.3483-6T>C
ENST00000268124.9:c.3483-6T>C	ENSP00000268124.5:n.3483-6T>C
ENST00000442287.6:c.3483-6T>C	ENSP00000399851.2:n.3483-6T>C
ENST00000526671.1:n.287T>C
ENST00000530292.2:c.666-6T>C	ENSP00000432885.1:n.666-6T>C
ENST00000631044.2:c.*2907-6T>C	ENSP00000486730.1:n.*2907-6T>C
NM_001126131.1:c.3483-6T>C	NP_001119603.1:n.3483-6T>C
NM_002693.2:c.3483-6T>C	NP_002684.1:n.3483-6T>C
NM_001126131.2:c.3483-6T>C	NP_001119603.1:n.3483-6T>C
NM_002693.3:c.3483-6T>C MANE Select	NP_002684.1:n.3483-6T>C