Canonical Allele Identifier: CA316786

Gene: POLG

Linked Data

• ClinVar Variation Id: 206571
• ClinVar RCV Id: RCV000188628 ; RCV001847833 ; RCV000758333
• dbSNP Id: rs765344513
• ExAC: 15:89860664 C / T
• gnomAD v2: 15-89860664-C-T
• gnomAD v3: 15-89317433-C-T
• gnomAD v4: 15-89317433-C-T
• MyVariant Identifiers: chr15:g.89860664C>T (hg19) ; chr15:g.89317433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317433C>T , CM000677.2:g.89317433C>T	GRCh38
NC_000015.9:g.89860664C>T , CM000677.1:g.89860664C>T	GRCh37
NC_000015.8:g.87661668C>T	NCBI36
NG_008218.1:g.22363G>A
NG_011736.1:g.78471C>T , LRG_500:g.78471C>T
NG_008218.2:g.22363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3586G>A	ENSP00000516154.1:p.Asp1196Asn
ENST00000268124.11:c.3586G>A MANE Select	ENSP00000268124.5:p.Asp1196Asn
ENST00000530292.3:c.3286G>A	ENSP00000432885.2:n.3286G>A
ENST00000635986.2:c.*656G>A	ENSP00000490653.2:n.*656G>A
ENST00000636774.1:c.*2190G>A	ENSP00000489799.1:n.*2190G>A
ENST00000637238.1:c.2494G>A	ENSP00000490756.1:n.2494G>A
ENST00000637264.1:c.2598G>A
ENST00000666746.1:c.3163G>A
ENST00000672071.1:n.4788G>A
ENST00000672695.1:n.1365G>A
ENST00000672923.2:n.3586G>A
ENST00000268124.9:c.3586G>A	ENSP00000268124.5:p.Asp1196Asn
ENST00000442287.6:c.3586G>A	ENSP00000399851.2:p.Asp1196Asn
ENST00000526671.1:n.396G>A
ENST00000530292.2:c.769G>A	ENSP00000432885.1:n.769G>A
ENST00000631044.2:c.*3010G>A	ENSP00000486730.1:n.*3010G>A
NM_001126131.1:c.3586G>A	NP_001119603.1:p.Asp1196Asn
NM_002693.2:c.3586G>A	NP_002684.1:p.Asp1196Asn
NM_001126131.2:c.3586G>A	NP_001119603.1:p.Asp1196Asn
NM_002693.3:c.3586G>A MANE Select	NP_002684.1:p.Asp1196Asn