Canonical Allele Identifier: CA316750

Gene: POLG

Linked Data

• ClinVar Variation Id: 206553
• ClinVar RCV Id: RCV001526410 ; RCV001857635
• dbSNP Id: rs779956099
• ExAC: 15:89862196 C / G
• gnomAD v2: 15-89862196-C-G
• gnomAD v3: 15-89318965-C-G
• gnomAD v4: 15-89318965-C-G
• MyVariant Identifiers: chr15:g.89862196C>G (hg19) ; chr15:g.89318965C>G (hg38)
• ERepo: CA316750/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318965C>G , CM000677.2:g.89318965C>G	GRCh38
NC_000015.9:g.89862196C>G , CM000677.1:g.89862196C>G	GRCh37
NC_000015.8:g.87663200C>G	NCBI36
NG_008218.1:g.20831G>C
NG_011736.1:g.80003C>G , LRG_500:g.80003C>G
NG_008218.2:g.20831G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3239G>C	ENSP00000516154.1:p.Ser1080Thr
ENST00000268124.11:c.3239G>C MANE Select	ENSP00000268124.5:p.Ser1080Thr
ENST00000530292.3:c.2840G>C	ENSP00000432885.2:p.Ser947Thr
ENST00000635986.2:c.*309G>C	ENSP00000490653.2:n.*309G>C
ENST00000636774.1:c.*1806G>C	ENSP00000489799.1:n.*1806G>C
ENST00000637238.1:c.2048G>C	ENSP00000490756.1:n.2048G>C
ENST00000637264.1:c.2311G>C
ENST00000666746.1:c.2816G>C
ENST00000672071.1:n.3437G>C
ENST00000672695.1:n.416G>C
ENST00000672923.2:n.3239G>C
ENST00000268124.9:c.3239G>C	ENSP00000268124.5:p.Ser1080Thr
ENST00000442287.6:c.3239G>C	ENSP00000399851.2:p.Ser1080Thr
ENST00000530292.2:c.323G>C	ENSP00000432885.1:p.Ser108Thr
ENST00000631044.2:c.*2663G>C	ENSP00000486730.1:n.*2663G>C
NM_001126131.1:c.3239G>C	NP_001119603.1:p.Ser1080Thr
NM_002693.2:c.3239G>C	NP_002684.1:p.Ser1080Thr
NM_001126131.2:c.3239G>C	NP_001119603.1:p.Ser1080Thr
NM_002693.3:c.3239G>C MANE Select	NP_002684.1:p.Ser1080Thr