Canonical Allele Identifier: CA7724093

Gene: POLG

Linked Data

• ClinVar Variation Id: 1081772
• ClinVar RCV Id: RCV001397840 ; RCV003985845
• dbSNP Id: rs369438927
• ExAC: 15:89860674 T / C
• gnomAD v2: 15-89860674-T-C
• gnomAD v3: 15-89317443-T-C
• gnomAD v4: 15-89317443-T-C
• MyVariant Identifiers: chr15:g.89860674T>C (hg19) ; chr15:g.89317443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317443T>C , CM000677.2:g.89317443T>C	GRCh38
NC_000015.9:g.89860674T>C , CM000677.1:g.89860674T>C	GRCh37
NC_000015.8:g.87661678T>C	NCBI36
NG_008218.1:g.22353A>G
NG_011736.1:g.78481T>C , LRG_500:g.78481T>C
NG_008218.2:g.22353A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3576A>G	ENSP00000516154.1:p.Glu1192=
ENST00000268124.11:c.3576A>G MANE Select	ENSP00000268124.5:p.Glu1192=
ENST00000530292.3:c.3276A>G	ENSP00000432885.2:n.3276A>G
ENST00000635986.2:c.*646A>G	ENSP00000490653.2:n.*646A>G
ENST00000636774.1:c.*2180A>G	ENSP00000489799.1:n.*2180A>G
ENST00000637042.1:n.100A>G
ENST00000637238.1:c.2484A>G	ENSP00000490756.1:n.2484A>G
ENST00000637264.1:c.2588A>G
ENST00000666746.1:c.3153A>G
ENST00000672071.1:n.4778A>G
ENST00000672695.1:n.1355A>G
ENST00000672923.2:n.3576A>G
ENST00000268124.9:c.3576A>G	ENSP00000268124.5:p.Glu1192=
ENST00000442287.6:c.3576A>G	ENSP00000399851.2:p.Glu1192=
ENST00000526671.1:n.386A>G
ENST00000530292.2:c.759A>G	ENSP00000432885.1:n.759A>G
ENST00000631044.2:c.*3000A>G	ENSP00000486730.1:n.*3000A>G
NM_001126131.1:c.3576A>G	NP_001119603.1:p.Glu1192=
NM_002693.2:c.3576A>G	NP_002684.1:p.Glu1192=
NM_001126131.2:c.3576A>G	NP_001119603.1:p.Glu1192=
NM_002693.3:c.3576A>G MANE Select	NP_002684.1:p.Glu1192=